Mardis ER

References (14)

Title : The Dynamic Genome and Transcriptome of the Human Fungal Pathogen Blastomyces and Close Relative Emmonsia - Munoz_2015_PLoS.Genet_11_e1005493
Author(s) : Munoz JF , Gauthier GM , Desjardins CA , Gallo JE , Holder J , Sullivan TD , Marty AJ , Carmen JC , Chen Z , Ding L , Gujja S , Magrini V , Misas E , Mitreva M , Priest M , Saif S , Whiston EA , Young S , Zeng Q , Goldman WE , Mardis ER , Taylor JW , McEwen JG , Clay OK , Klein BS , Cuomo CA
Ref : PLoS Genet , 11 :e1005493 , 2015
Abstract : Three closely related thermally dimorphic pathogens are causal agents of major fungal diseases affecting humans in the Americas: blastomycosis, histoplasmosis and paracoccidioidomycosis. Here we report the genome sequence and analysis of four strains of the etiological agent of blastomycosis, Blastomyces, and two species of the related genus Emmonsia, typically pathogens of small mammals. Compared to related species, Blastomyces genomes are highly expanded, with long, often sharply demarcated tracts of low GC-content sequence. These GC-poor isochore-like regions are enriched for gypsy elements, are variable in total size between isolates, and are least expanded in the avirulent B. dermatitidis strain ER-3 as compared with the virulent B. gilchristii strain SLH14081. The lack of similar regions in related species suggests these isochore-like regions originated recently in the ancestor of the Blastomyces lineage. While gene content is highly conserved between Blastomyces and related fungi, we identified changes in copy number of genes potentially involved in host interaction, including proteases and characterized antigens. In addition, we studied gene expression changes of B. dermatitidis during the interaction of the infectious yeast form with macrophages and in a mouse model. Both experiments highlight a strong antioxidant defense response in Blastomyces, and upregulation of dioxygenases in vivo suggests that dioxide produced by antioxidants may be further utilized for amino acid metabolism. We identify a number of functional categories upregulated exclusively in vivo, such as secreted proteins, zinc acquisition proteins, and cysteine and tryptophan metabolism, which may include critical virulence factors missed before in in vitro studies. Across the dimorphic fungi, loss of certain zinc acquisition genes and differences in amino acid metabolism suggest unique adaptations of Blastomyces to its host environment. These results reveal the dynamics of genome evolution and of factors contributing to virulence in Blastomyces.
ESTHER : Munoz_2015_PLoS.Genet_11_e1005493
PubMedSearch : Munoz_2015_PLoS.Genet_11_e1005493
PubMedID: 26439490
Gene_locus related to this paper: ajedr-c5gqv9 , 9euro-a0a2b7ztc4 , 9euro-a0a2b7wr51 , blags-a0a179v0z0 , 9euro-a0a0h1bel0 , blags-a0a179udh1 , ajedr-kex1 , ajedr-cbpya

Title : The Oxytricha trifallax macronuclear genome: a complex eukaryotic genome with 16,000 tiny chromosomes - Swart_2013_PLoS.Biol_11_e1001473
Author(s) : Swart EC , Bracht JR , Magrini V , Minx P , Chen X , Zhou Y , Khurana JS , Goldman AD , Nowacki M , Schotanus K , Jung S , Fulton RS , Ly A , McGrath S , Haub K , Wiggins JL , Storton D , Matese JC , Parsons L , Chang WJ , Bowen MS , Stover NA , Jones TA , Eddy SR , Herrick GA , Doak TG , Wilson RK , Mardis ER , Landweber LF
Ref : PLoS Biol , 11 :e1001473 , 2013
Abstract : The macronuclear genome of the ciliate Oxytricha trifallax displays an extreme and unique eukaryotic genome architecture with extensive genomic variation. During sexual genome development, the expressed, somatic macronuclear genome is whittled down to the genic portion of a small fraction ( approximately 5%) of its precursor "silent" germline micronuclear genome by a process of "unscrambling" and fragmentation. The tiny macronuclear "nanochromosomes" typically encode single, protein-coding genes (a small portion, 10%, encode 2-8 genes), have minimal noncoding regions, and are differentially amplified to an average of approximately 2,000 copies. We report the high-quality genome assembly of approximately 16,000 complete nanochromosomes ( approximately 50 Mb haploid genome size) that vary from 469 bp to 66 kb long (mean approximately 3.2 kb) and encode approximately 18,500 genes. Alternative DNA fragmentation processes approximately 10% of the nanochromosomes into multiple isoforms that usually encode complete genes. Nucleotide diversity in the macronucleus is very high (SNP heterozygosity is approximately 4.0%), suggesting that Oxytricha trifallax may have one of the largest known effective population sizes of eukaryotes. Comparison to other ciliates with nonscrambled genomes and long macronuclear chromosomes (on the order of 100 kb) suggests several candidate proteins that could be involved in genome rearrangement, including domesticated MULE and IS1595-like DDE transposases. The assembly of the highly fragmented Oxytricha macronuclear genome is the first completed genome with such an unusual architecture. This genome sequence provides tantalizing glimpses into novel molecular biology and evolution. For example, Oxytricha maintains tens of millions of telomeres per cell and has also evolved an intriguing expansion of telomere end-binding proteins. In conjunction with the micronuclear genome in progress, the O. trifallax macronuclear genome will provide an invaluable resource for investigating programmed genome rearrangements, complementing studies of rearrangements arising during evolution and disease.
ESTHER : Swart_2013_PLoS.Biol_11_e1001473
PubMedSearch : Swart_2013_PLoS.Biol_11_e1001473
PubMedID: 23382650
Gene_locus related to this paper: 9spit-j9j7j1 , 9spit-j9hp22 , 9spit-j9ivu0

Title : A high-resolution map of human evolutionary constraint using 29 mammals - Lindblad-Toh_2011_Nature_478_476
Author(s) : Lindblad-Toh K , Garber M , Zuk O , Lin MF , Parker BJ , Washietl S , Kheradpour P , Ernst J , Jordan G , Mauceli E , Ward LD , Lowe CB , Holloway AK , Clamp M , Gnerre S , Alfoldi J , Beal K , Chang J , Clawson H , Cuff J , Di Palma F , Fitzgerald S , Flicek P , Guttman M , Hubisz MJ , Jaffe DB , Jungreis I , Kent WJ , Kostka D , Lara M , Martins AL , Massingham T , Moltke I , Raney BJ , Rasmussen MD , Robinson J , Stark A , Vilella AJ , Wen J , Xie X , Zody MC , Baldwin J , Bloom T , Chin CW , Heiman D , Nicol R , Nusbaum C , Young S , Wilkinson J , Worley KC , Kovar CL , Muzny DM , Gibbs RA , Cree A , Dihn HH , Fowler G , Jhangiani S , Joshi V , Lee S , Lewis LR , Nazareth LV , Okwuonu G , Santibanez J , Warren WC , Mardis ER , Weinstock GM , Wilson RK , Delehaunty K , Dooling D , Fronik C , Fulton L , Fulton B , Graves T , Minx P , Sodergren E , Birney E , Margulies EH , Herrero J , Green ED , Haussler D , Siepel A , Goldman N , Pollard KS , Pedersen JS , Lander ES , Kellis M
Ref : Nature , 478 :476 , 2011
Abstract : The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at least 5.5% of the human genome has undergone purifying selection, and locate constrained elements covering approximately 4.2% of the genome. We use evolutionary signatures and comparisons with experimental data sets to suggest candidate functions for approximately 60% of constrained bases. These elements reveal a small number of new coding exons, candidate stop codon readthrough events and over 10,000 regions of overlapping synonymous constraint within protein-coding exons. We find 220 candidate RNA structural families, and nearly a million elements overlapping potential promoter, enhancer and insulator regions. We report specific amino acid residues that have undergone positive selection, 280,000 non-coding elements exapted from mobile elements and more than 1,000 primate- and human-accelerated elements. Overlap with disease-associated variants indicates that our findings will be relevant for studies of human biology, health and disease.
ESTHER : Lindblad-Toh_2011_Nature_478_476
PubMedSearch : Lindblad-Toh_2011_Nature_478_476
PubMedID: 21993624
Gene_locus related to this paper: cavpo-1plip , cavpo-2plrp , cavpo-h0v1b7 , cavpo-h0v5v8 , cavpo-h0vj36 , cavpo-lipli , rabit-1hlip , rabit-1plip , rabit-g1t6x7 , rabit-LIPH , myolu-l7n1c2 , myolu-g1pqd9 , cavpo-h0uyz6 , cavpo-h0vi56 , rabit-g1tbj4 , myolu-g1p5c0 , rabit-g1sds3 , rabit-g1sye0 , cavpo-h0v0r2 , cavpo-h0v7s5 , rabit-g1sp43 , myolu-g1p4p3 , cavpo-h0vw09 , rabit-g1ssu3 , myolu-g1pds0 , rabit-g1sic4 , cavpo-h0v2c4 , myolu-g1pg61 , myolu-g1pnb1 , myolu-g1pu06 , myolu-g1qa15 , myolu-g1qfu0 , rabit-g1sn99 , rabit-g1snq9 , rabit-g1sns7 , rabit-g1tuu8 , rabit-g1tzq7 , cavpo-h0v2i2 , cavpo-h0v2j0 , cavpo-h0vsf5 , cavpo-a0a286x8d3 , cavpo-a0a286xbr3 , cavpo-a0a286y0i8 , cavpo-a0a286y4p3 , myolu-g1q2n9 , cavpo-h0v1p4 , myolu-g1pan8 , myolu-g1paq0 , myolu-g1par4 , myolu-g1prn3 , myolu-g1q3i0 , myolu-g1q463 , myolu-g1pat6 , myolu-g1q859 , rabit-g1sul9 , rabit-g1sun0 , rabit-g1sup0 , myolu-l7n125 , myolu-g1pan2 , rabit-g1sxd0 , cavpo-h0v8j4 , rabit-d5fit0 , rabit-g1tkr5 , myolu-g1nty6 , myolu-g1p1p3 , cavpo-h0vdd5 , myolu-g1pdp2 , rabit-g1tmm5 , cavpo-h0vhq3 , myolu-g1nth4 , cavpo-h0vqx6 , rabit-g1tqr7 , myolu-g1p1e9 , cavpo-h0v8y6 , rabit-g1skt3 , myolu-g1nzg3 , cavpo-h0v5z0 , rabit-g1sgz5 , myolu-g1pkg5 , rabit-g1tmw5 , rabit-g1t134 , cavpo-a0a286x9v5 , myolu-g1qc57 , myolu-g1q061 , rabit-g1tnp4 , rabit-g1tyf7 , cavpo-h0w2w1 , rabit-g1ta36 , cavpo-h0w342 , myolu-g1q4e3 , rabit-g1sqa1 , cavpo-h0uxk7 , myolu-g1p353 , cavpo-h0vpm0 , rabit-a0a5f9cru6 , cavpo-a0a286xtc0

Title : The draft genome of the parasitic nematode Trichinella spiralis - Mitreva_2011_Nat.Genet_43_228
Author(s) : Mitreva M , Jasmer DP , Zarlenga DS , Wang Z , Abubucker S , Martin J , Taylor CM , Yin Y , Fulton L , Minx P , Yang SP , Warren WC , Fulton RS , Bhonagiri V , Zhang X , Hallsworth-Pepin K , Clifton SW , McCarter JP , Appleton J , Mardis ER , Wilson RK
Ref : Nat Genet , 43 :228 , 2011
Abstract : Genome evolution studies for the phylum Nematoda have been limited by focusing on comparisons involving Caenorhabditis elegans. We report a draft genome sequence of Trichinella spiralis, a food-borne zoonotic parasite, which is the most common cause of human trichinellosis. This parasitic nematode is an extant member of a clade that diverged early in the evolution of the phylum, enabling identification of archetypical genes and molecular signatures exclusive to nematodes. We sequenced the 64-Mb nuclear genome, which is estimated to contain 15,808 protein-coding genes, at approximately 35-fold coverage using whole-genome shotgun and hierarchal map-assisted sequencing. Comparative genome analyses support intrachromosomal rearrangements across the phylum, disproportionate numbers of protein family deaths over births in parasitic compared to a non-parasitic nematode and a preponderance of gene-loss and -gain events in nematodes relative to Drosophila melanogaster. This genome sequence and the identified pan-phylum characteristics will contribute to genome evolution studies of Nematoda as well as strategies to combat global parasites of humans, food animals and crops.
ESTHER : Mitreva_2011_Nat.Genet_43_228
PubMedSearch : Mitreva_2011_Nat.Genet_43_228
PubMedID: 21336279
Gene_locus related to this paper: trisp-ACHE1 , trisp-e5ryh1 , trisp-e5s2p1 , trisp-e5s3s1 , trisp-e5s5l6 , trisp-e5s7y8 , trisp-e5s8m6 , trisp-e5s9j3 , trisp-e5s254 , trisp-e5s773 , trisp-e5sav1 , trisp-e5sbp4 , trisp-e5sgg4 , trisp-e5sgu8 , trisp-e5snw0 , trisp-e5sr61 , trisp-e5ss42 , trisp-e5sgh2 , 9bila-a0a0v0tgw4.1 , 9bila-a0a0v0tws5

Title : The genome of a songbird - Warren_2010_Nature_464_757
Author(s) : Warren WC , Clayton DF , Ellegren H , Arnold AP , Hillier LW , Kunstner A , Searle S , White S , Vilella AJ , Fairley S , Heger A , Kong L , Ponting CP , Jarvis ED , Mello CV , Minx P , Lovell P , Velho TA , Ferris M , Balakrishnan CN , Sinha S , Blatti C , London SE , Li Y , Lin YC , George J , Sweedler J , Southey B , Gunaratne P , Watson M , Nam K , Backstrom N , Smeds L , Nabholz B , Itoh Y , Whitney O , Pfenning AR , Howard J , Volker M , Skinner BM , Griffin DK , Ye L , McLaren WM , Flicek P , Quesada V , Velasco G , Lopez-Otin C , Puente XS , Olender T , Lancet D , Smit AF , Hubley R , Konkel MK , Walker JA , Batzer MA , Gu W , Pollock DD , Chen L , Cheng Z , Eichler EE , Stapley J , Slate J , Ekblom R , Birkhead T , Burke T , Burt D , Scharff C , Adam I , Richard H , Sultan M , Soldatov A , Lehrach H , Edwards SV , Yang SP , Li X , Graves T , Fulton L , Nelson J , Chinwalla A , Hou S , Mardis ER , Wilson RK
Ref : Nature , 464 :757 , 2010
Abstract : The zebra finch is an important model organism in several fields with unique relevance to human neuroscience. Like other songbirds, the zebra finch communicates through learned vocalizations, an ability otherwise documented only in humans and a few other animals and lacking in the chicken-the only bird with a sequenced genome until now. Here we present a structural, functional and comparative analysis of the genome sequence of the zebra finch (Taeniopygia guttata), which is a songbird belonging to the large avian order Passeriformes. We find that the overall structures of the genomes are similar in zebra finch and chicken, but they differ in many intrachromosomal rearrangements, lineage-specific gene family expansions, the number of long-terminal-repeat-based retrotransposons, and mechanisms of sex chromosome dosage compensation. We show that song behaviour engages gene regulatory networks in the zebra finch brain, altering the expression of long non-coding RNAs, microRNAs, transcription factors and their targets. We also show evidence for rapid molecular evolution in the songbird lineage of genes that are regulated during song experience. These results indicate an active involvement of the genome in neural processes underlying vocal communication and identify potential genetic substrates for the evolution and regulation of this behaviour.
ESTHER : Warren_2010_Nature_464_757
PubMedSearch : Warren_2010_Nature_464_757
PubMedID: 20360741
Gene_locus related to this paper: taegu-b5fyu7 , taegu-BCHE , taegu-h0z4h9 , taegu-h0z9w8 , taegu-h0zat6 , taegu-h0ze48 , taegu-h0zha8 , taegu-h0zkr8 , taegu-h0zqp3 , taegu-h0zz82 , taegu-h0zqs1 , taegu-h0yy64 , taegu-h0yv40 , taegu-h0yyt1 , taegu-h0zcc8 , taegu-h0z3k5 , taegu-h0yw95 , taegu-h0zkm7 , taegu-h1a198 , taegu-h0z6w2 , taegu-h0zl93 , taegu-h0zt33 , taegu-h0yp71 , taegu-h0ypu5 , taegu-h1a048 , taegu-h0ztq1 , fical-u3kau2 , 9pass-a0a093qu66 , taegu-h0z7g0 , fical-u3jnn0 , taegu-h0zb80 , taegu-h0zb89 , taegu-h0z994 , taegu-h0ztj6

Title : A precise reconstruction of the emergence and constrained radiations of Escherichia coli O157 portrayed by backbone concatenomic analysis - Leopold_2009_Proc.Natl.Acad.Sci.U.S.A_106_8713
Author(s) : Leopold SR , Magrini V , Holt NJ , Shaikh N , Mardis ER , Cagno J , Ogura Y , Iguchi A , Hayashi T , Mellmann A , Karch H , Besser TE , Sawyer SA , Whittam TS , Tarr PI
Ref : Proc Natl Acad Sci U S A , 106 :8713 , 2009
Abstract : Single nucleotide polymorphisms (SNPs) in stable genome regions provide durable measurements of species evolution. We systematically identified each SNP in concatenations of all backbone ORFs in 7 newly or previously sequenced evolutionarily instructive pathogenic Escherichia coli O157:H7, O157:H(-), and O55:H7. The 1,113 synonymous SNPs demonstrate emergence of the largest cluster of this pathogen only in the last millennium. Unexpectedly, shared SNPs within circumscribed clusters of organisms suggest severely restricted survival and limited effective population sizes of pathogenic O157:H7, tenuous survival of these organisms in nature, source-sink evolutionary dynamics, or, possibly, a limited number of mutations that confer selective advantage. A single large segment spanning the rfb-gnd gene cluster is the only backbone region convincingly acquired by recombination as O157 emerged from O55. This concatenomic analysis also supports using SNPs to differentiate closely related pathogens for infection control and forensic purposes. However, constrained radiations raise the possibility of making false associations between isolates.
ESTHER : Leopold_2009_Proc.Natl.Acad.Sci.U.S.A_106_8713
PubMedSearch : Leopold_2009_Proc.Natl.Acad.Sci.U.S.A_106_8713
PubMedID: 19439656
Gene_locus related to this paper: ecoli-Aes , ecoli-rutD , ecoli-bioh , ecoli-dlhh , ecoli-entf , ecoli-fes , ecoli-mhpc , ecoli-pldb , ecoli-ptrb , ecoli-yafa , ecoli-yaim , ecoli-ybff , ecoli-ycfp , ecoli-ycjy , ecoli-yeiG , ecoli-YFBB , ecoli-yghX , ecoli-yhet , ecoli-yjfp , ecoli-YNBC , ecoli-ypfh , ecoli-yqia , ecoli-YfhR , neucr-q7sha3

Title : Genome analysis of the platypus reveals unique signatures of evolution - Warren_2008_Nature_453_175
Author(s) : Warren WC , Hillier LW , Marshall Graves JA , Birney E , Ponting CP , Grutzner F , Belov K , Miller W , Clarke L , Chinwalla AT , Yang SP , Heger A , Locke DP , Miethke P , Waters PD , Veyrunes F , Fulton L , Fulton B , Graves T , Wallis J , Puente XS , Lopez-Otin C , Ordonez GR , Eichler EE , Chen L , Cheng Z , Deakin JE , Alsop A , Thompson K , Kirby P , Papenfuss AT , Wakefield MJ , Olender T , Lancet D , Huttley GA , Smit AF , Pask A , Temple-Smith P , Batzer MA , Walker JA , Konkel MK , Harris RS , Whittington CM , Wong ES , Gemmell NJ , Buschiazzo E , Vargas Jentzsch IM , Merkel A , Schmitz J , Zemann A , Churakov G , Kriegs JO , Brosius J , Murchison EP , Sachidanandam R , Smith C , Hannon GJ , Tsend-Ayush E , McMillan D , Attenborough R , Rens W , Ferguson-Smith M , Lefevre CM , Sharp JA , Nicholas KR , Ray DA , Kube M , Reinhardt R , Pringle TH , Taylor J , Jones RC , Nixon B , Dacheux JL , Niwa H , Sekita Y , Huang X , Stark A , Kheradpour P , Kellis M , Flicek P , Chen Y , Webber C , Hardison R , Nelson J , Hallsworth-Pepin K , Delehaunty K , Markovic C , Minx P , Feng Y , Kremitzki C , Mitreva M , Glasscock J , Wylie T , Wohldmann P , Thiru P , Nhan MN , Pohl CS , Smith SM , Hou S , Nefedov M , de Jong PJ , Renfree MB , Mardis ER , Wilson RK
Ref : Nature , 453 :175 , 2008
Abstract : We present a draft genome sequence of the platypus, Ornithorhynchus anatinus. This monotreme exhibits a fascinating combination of reptilian and mammalian characters. For example, platypuses have a coat of fur adapted to an aquatic lifestyle; platypus females lactate, yet lay eggs; and males are equipped with venom similar to that of reptiles. Analysis of the first monotreme genome aligned these features with genetic innovations. We find that reptile and platypus venom proteins have been co-opted independently from the same gene families; milk protein genes are conserved despite platypuses laying eggs; and immune gene family expansions are directly related to platypus biology. Expansions of protein, non-protein-coding RNA and microRNA families, as well as repeat elements, are identified. Sequencing of this genome now provides a valuable resource for deep mammalian comparative analyses, as well as for monotreme biology and conservation.
ESTHER : Warren_2008_Nature_453_175
PubMedSearch : Warren_2008_Nature_453_175
PubMedID: 18464734
Gene_locus related to this paper: ornan-f6s0q0 , ornan-f6ty74 , ornan-f6u2k2 , ornan-f6uve1 , ornan-f6vpb6 , ornan-f6ybp3 , ornan-f7bgu8 , ornan-f7ct41 , ornan-f7cza1 , ornan-f7ejp8 , ornan-f7exu1 , ornan-f7f392 , ornan-f7f9y6 , ornan-f6ve87 , ornan-f7f1d9 , ornan-f6z3l1 , ornan-f6r3f9 , ornan-f6r3g8 , ornan-f6vs71 , ornan-f7g4v8

Title : Evolutionary and biomedical insights from the rhesus macaque genome - Gibbs_2007_Science_316_222
Author(s) : Gibbs RA , Rogers J , Katze MG , Bumgarner R , Weinstock GM , Mardis ER , Remington KA , Strausberg RL , Venter JC , Wilson RK , Batzer MA , Bustamante CD , Eichler EE , Hahn MW , Hardison RC , Makova KD , Miller W , Milosavljevic A , Palermo RE , Siepel A , Sikela JM , Attaway T , Bell S , Bernard KE , Buhay CJ , Chandrabose MN , Dao M , Davis C , Delehaunty KD , Ding Y , Dinh HH , Dugan-Rocha S , Fulton LA , Gabisi RA , Garner TT , Godfrey J , Hawes AC , Hernandez J , Hines S , Holder M , Hume J , Jhangiani SN , Joshi V , Khan ZM , Kirkness EF , Cree A , Fowler RG , Lee S , Lewis LR , Li Z , Liu YS , Moore SM , Muzny D , Nazareth LV , Ngo DN , Okwuonu GO , Pai G , Parker D , Paul HA , Pfannkoch C , Pohl CS , Rogers YH , Ruiz SJ , Sabo A , Santibanez J , Schneider BW , Smith SM , Sodergren E , Svatek AF , Utterback TR , Vattathil S , Warren W , White CS , Chinwalla AT , Feng Y , Halpern AL , Hillier LW , Huang X , Minx P , Nelson JO , Pepin KH , Qin X , Sutton GG , Venter E , Walenz BP , Wallis JW , Worley KC , Yang SP , Jones SM , Marra MA , Rocchi M , Schein JE , Baertsch R , Clarke L , Csuros M , Glasscock J , Harris RA , Havlak P , Jackson AR , Jiang H , Liu Y , Messina DN , Shen Y , Song HX , Wylie T , Zhang L , Birney E , Han K , Konkel MK , Lee J , Smit AF , Ullmer B , Wang H , Xing J , Burhans R , Cheng Z , Karro JE , Ma J , Raney B , She X , Cox MJ , Demuth JP , Dumas LJ , Han SG , Hopkins J , Karimpour-Fard A , Kim YH , Pollack JR , Vinar T , Addo-Quaye C , Degenhardt J , Denby A , Hubisz MJ , Indap A , Kosiol C , Lahn BT , Lawson HA , Marklein A , Nielsen R , Vallender EJ , Clark AG , Ferguson B , Hernandez RD , Hirani K , Kehrer-Sawatzki H , Kolb J , Patil S , Pu LL , Ren Y , Smith DG , Wheeler DA , Schenck I , Ball EV , Chen R , Cooper DN , Giardine B , Hsu F , Kent WJ , Lesk A , Nelson DL , O'Brien W E , Prufer K , Stenson PD , Wallace JC , Ke H , Liu XM , Wang P , Xiang AP , Yang F , Barber GP , Haussler D , Karolchik D , Kern AD , Kuhn RM , Smith KE , Zwieg AS
Ref : Science , 316 :222 , 2007
Abstract : The rhesus macaque (Macaca mulatta) is an abundant primate species that diverged from the ancestors of Homo sapiens about 25 million years ago. Because they are genetically and physiologically similar to humans, rhesus monkeys are the most widely used nonhuman primate in basic and applied biomedical research. We determined the genome sequence of an Indian-origin Macaca mulatta female and compared the data with chimpanzees and humans to reveal the structure of ancestral primate genomes and to identify evidence for positive selection and lineage-specific expansions and contractions of gene families. A comparison of sequences from individual animals was used to investigate their underlying genetic diversity. The complete description of the macaque genome blueprint enhances the utility of this animal model for biomedical research and improves our understanding of the basic biology of the species.
ESTHER : Gibbs_2007_Science_316_222
PubMedSearch : Gibbs_2007_Science_316_222
PubMedID: 17431167
Gene_locus related to this paper: macmu-3neur , macmu-ACHE , macmu-BCHE , macmu-f6rul6 , macmu-f6sz31 , macmu-f6the6 , macmu-f6unj2 , macmu-f6wtx1 , macmu-f6zkq5 , macmu-f7aa58 , macmu-f7ai42 , macmu-f7aim4 , macmu-f7buk8 , macmu-f7cfi8 , macmu-f7cnr2 , macmu-f7cu68 , macmu-f7flv1 , macmu-f7ggk1 , macmu-f7hir7 , macmu-g7n054 , macmu-KANSL3 , macmu-TEX30 , macmu-Y4neur , macmu-g7n4x3 , macmu-i2cy02 , macmu-f7ba84 , macmu-CES2 , macmu-h9er02 , macmu-a0a1d5rbr3 , macmu-a0a1d5q4k5 , macmu-g7mxj6 , macmu-f7dn71 , macmu-f7hkw9 , macmu-f7hm08 , macmu-g7mke4 , macmu-a0a1d5rh04 , macmu-h9fud6 , macmu-f6qwx1 , macmu-f7h4t2 , macmu-h9zaw9 , macmu-f7h550 , macmu-a0a1d5q9w1 , macmu-f7gkb9 , macmu-f7hp78 , macmu-a0a1d5qvu5

Title : The complete genome sequence of a chronic atrophic gastritis Helicobacter pylori strain: evolution during disease progression - Oh_2006_Proc.Natl.Acad.Sci.U.S.A_103_9999
Author(s) : Oh JD , Kling-Backhed H , Giannakis M , Xu J , Fulton RS , Fulton LA , Cordum HS , Wang C , Elliott G , Edwards J , Mardis ER , Engstrand LG , Gordon JI
Ref : Proc Natl Acad Sci U S A , 103 :9999 , 2006
Abstract : Helicobacter pylori produces acute superficial gastritis in nearly all of its human hosts. However, a subset of individuals develops chronic atrophic gastritis (ChAG), a condition characterized in part by diminished numbers of acid-producing parietal cells and increased risk for development of gastric adenocarcinoma. Previously, we used a gnotobiotic transgenic mouse model with an engineered ablation of parietal cells to show that loss of parietal cells provides an opportunity for a H. pylori isolate from a patient with ChAG (HPAG1) to bind to, enter, and persist within gastric stem cells. This finding raises the question of how ChAG influences H. pylori genome evolution, physiology, and tumorigenesis. Here we describe the 1,596,366-bp HPAG1 genome. Custom HPAG1 Affymetrix GeneChips, representing 99.6% of its predicted ORFs, were used for whole-genome genotyping of additional H. pylori ChAG isolates obtained from Swedish patients enrolled in a case-control study of gastric cancer, as well as ChAG- and cancer-associated isolates from an individual who progressed from ChAG to gastric adenocarcinoma. The results reveal a shared gene signature among ChAG strains, as well as genes that may have been lost or gained during progression to adenocarcinoma. Whole-genome transcriptional profiling of HPAG1's response to acid during in vitro growth indicates that genes encoding components of metal uptake and utilization pathways, outer membrane proteins, and virulence factors are among those associated with H. pylori's adaptation to ChAG.
ESTHER : Oh_2006_Proc.Natl.Acad.Sci.U.S.A_103_9999
PubMedSearch : Oh_2006_Proc.Natl.Acad.Sci.U.S.A_103_9999
PubMedID: 16788065
Gene_locus related to this paper: helpy-o25061

Title : Identification of genes subject to positive selection in uropathogenic strains of Escherichia coli: a comparative genomics approach - Chen_2006_Proc.Natl.Acad.Sci.U.S.A_103_5977
Author(s) : Chen SL , Hung CS , Xu J , Reigstad CS , Magrini V , Sabo A , Blasiar D , Bieri T , Meyer RR , Ozersky P , Armstrong JR , Fulton RS , Latreille JP , Spieth J , Hooton TM , Mardis ER , Hultgren SJ , Gordon JI
Ref : Proc Natl Acad Sci U S A , 103 :5977 , 2006
Abstract : Escherichia coli is a model laboratory bacterium, a species that is widely distributed in the environment, as well as a mutualist and pathogen in its human hosts. As such, E. coli represents an attractive organism to study how environment impacts microbial genome structure and function. Uropathogenic E. coli (UPEC) must adapt to life in several microbial communities in the human body, and has a complex life cycle in the bladder when it causes acute or recurrent urinary tract infection (UTI). Several studies designed to identify virulence factors have focused on genes that are uniquely represented in UPEC strains, whereas the role of genes that are common to all E. coli has received much less attention. Here we describe the complete 5,065,741-bp genome sequence of a UPEC strain recovered from a patient with an acute bladder infection and compare it with six other finished E. coli genome sequences. We searched 3,470 ortholog sets for genes that are under positive selection only in UPEC strains. Our maximum likelihood-based analysis yielded 29 genes involved in various aspects of cell surface structure, DNA metabolism, nutrient acquisition, and UTI. These results were validated by resequencing a subset of the 29 genes in a panel of 50 urinary, periurethral, and rectal E. coli isolates from patients with UTI. These studies outline a computational approach that may be broadly applicable for studying strain-specific adaptation and pathogenesis in other bacteria.
ESTHER : Chen_2006_Proc.Natl.Acad.Sci.U.S.A_103_5977
PubMedSearch : Chen_2006_Proc.Natl.Acad.Sci.U.S.A_103_5977
PubMedID: 16585510
Gene_locus related to this paper: ecoli-Aes , ecoli-rutD , ecoli-bioh , ecoli-C0410 , ecoli-C2429 , ecoli-C2451 , ecoli-C4836 , ecoli-dlhh , ecoli-entf , ecoli-fes , ecoli-IROD , ecoli-IROE , ecoli-pldb , ecoli-ptrb , ecoli-yafa , ecoli-yaim , ecoli-ybff , ecoli-ycfp , ecoli-ycjy , ecoli-yeiG , ecoli-YFBB , ecoli-yghX , ecoli-yhet , ecoli-yiel , ecoli-yjfp , ecoli-YNBC , ecoli-ypfh , ecoli-ypt1 , ecoli-yqia , ecoli-YfhR , ecout-q1r7l6 , yerpe-YBTT

Title : Generation and annotation of the DNA sequences of human chromosomes 2 and 4 - Hillier_2005_Nature_434_724
Author(s) : Hillier LW , Graves TA , Fulton RS , Fulton LA , Pepin KH , Minx P , Wagner-McPherson C , Layman D , Wylie K , Sekhon M , Becker MC , Fewell GA , Delehaunty KD , Miner TL , Nash WE , Kremitzki C , Oddy L , Du H , Sun H , Bradshaw-Cordum H , Ali J , Carter J , Cordes M , Harris A , Isak A , Van Brunt A , Nguyen C , Du F , Courtney L , Kalicki J , Ozersky P , Abbott S , Armstrong J , Belter EA , Caruso L , Cedroni M , Cotton M , Davidson T , Desai A , Elliott G , Erb T , Fronick C , Gaige T , Haakenson W , Haglund K , Holmes A , Harkins R , Kim K , Kruchowski SS , Strong CM , Grewal N , Goyea E , Hou S , Levy A , Martinka S , Mead K , McLellan MD , Meyer R , Randall-Maher J , Tomlinson C , Dauphin-Kohlberg S , Kozlowicz-Reilly A , Shah N , Swearengen-Shahid S , Snider J , Strong JT , Thompson J , Yoakum M , Leonard S , Pearman C , Trani L , Radionenko M , Waligorski JE , Wang C , Rock SM , Tin-Wollam AM , Maupin R , Latreille P , Wendl MC , Yang SP , Pohl C , Wallis JW , Spieth J , Bieri TA , Berkowicz N , Nelson JO , Osborne J , Ding L , Sabo A , Shotland Y , Sinha P , Wohldmann PE , Cook LL , Hickenbotham MT , Eldred J , Williams D , Jones TA , She X , Ciccarelli FD , Izaurralde E , Taylor J , Schmutz J , Myers RM , Cox DR , Huang X , McPherson JD , Mardis ER , Clifton SW , Warren WC , Chinwalla AT , Eddy SR , Marra MA , Ovcharenko I , Furey TS , Miller W , Eichler EE , Bork P , Suyama M , Torrents D , Waterston RH , Wilson RK
Ref : Nature , 434 :724 , 2005
Abstract : Human chromosome 2 is unique to the human lineage in being the product of a head-to-head fusion of two intermediate-sized ancestral chromosomes. Chromosome 4 has received attention primarily related to the search for the Huntington's disease gene, but also for genes associated with Wolf-Hirschhorn syndrome, polycystic kidney disease and a form of muscular dystrophy. Here we present approximately 237 million base pairs of sequence for chromosome 2, and 186 million base pairs for chromosome 4, representing more than 99.6% of their euchromatic sequences. Our initial analyses have identified 1,346 protein-coding genes and 1,239 pseudogenes on chromosome 2, and 796 protein-coding genes and 778 pseudogenes on chromosome 4. Extensive analyses confirm the underlying construction of the sequence, and expand our understanding of the structure and evolution of mammalian chromosomes, including gene deserts, segmental duplications and highly variant regions.
ESTHER : Hillier_2005_Nature_434_724
PubMedSearch : Hillier_2005_Nature_434_724
PubMedID: 15815621
Gene_locus related to this paper: human-ABHD1 , human-LDAH , human-ABHD18 , human-KANSL3 , human-PGAP1 , human-PREPL

Title : Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution - Hillier_2004_Nature_432_695
Author(s) : Hillier LW , Miller W , Birney E , Warren W , Hardison RC , Ponting CP , Bork P , Burt DW , Groenen MA , Delany ME , Dodgson JB , Chinwalla AT , Cliften PF , Clifton SW , Delehaunty KD , Fronick C , Fulton RS , Graves TA , Kremitzki C , Layman D , Magrini V , McPherson JD , Miner TL , Minx P , Nash WE , Nhan MN , Nelson JO , Oddy LG , Pohl CS , Randall-Maher J , Smith SM , Wallis JW , Yang SP , Romanov MN , Rondelli CM , Paton B , Smith J , Morrice D , Daniels L , Tempest HG , Robertson L , Masabanda JS , Griffin DK , Vignal A , Fillon V , Jacobbson L , Kerje S , Andersson L , Crooijmans RP , Aerts J , van der Poel JJ , Ellegren H , Caldwell RB , Hubbard SJ , Grafham DV , Kierzek AM , McLaren SR , Overton IM , Arakawa H , Beattie KJ , Bezzubov Y , Boardman PE , Bonfield JK , Croning MD , Davies RM , Francis MD , Humphray SJ , Scott CE , Taylor RG , Tickle C , Brown WR , Rogers J , Buerstedde JM , Wilson SA , Stubbs L , Ovcharenko I , Gordon L , Lucas S , Miller MM , Inoko H , Shiina T , Kaufman J , Salomonsen J , Skjoedt K , Ka-Shu Wong G , Wang J , Liu B , Yu J , Yang H , Nefedov M , Koriabine M , deJong PJ , Goodstadt L , Webber C , Dickens NJ , Letunic I , Suyama M , Torrents D , von Mering C , Zdobnov EM , Makova K , Nekrutenko A , Elnitski L , Eswara P , King DC , Yang S , Tyekucheva S , Radakrishnan A , Harris RS , Chiaromonte F , Taylor J , He J , Rijnkels M , Griffiths-Jones S , Ureta-Vidal A , Hoffman MM , Severin J , Searle SM , Law AS , Speed D , Waddington D , Cheng Z , Tuzun E , Eichler E , Bao Z , Flicek P , Shteynberg DD , Brent MR , Bye JM , Huckle EJ , Chatterji S , Dewey C , Pachter L , Kouranov A , Mourelatos Z , Hatzigeorgiou AG , Paterson AH , Ivarie R , Brandstrom M , Axelsson E , Backstrom N , Berlin S , Webster MT , Pourquie O , Reymond A , Ucla C , Antonarakis SE , Long M , Emerson JJ , Betran E , Dupanloup I , Kaessmann H , Hinrichs AS , Bejerano G , Furey TS , Harte RA , Raney B , Siepel A , Kent WJ , Haussler D , Eyras E , Castelo R , Abril JF , Castellano S , Camara F , Parra G , Guigo R , Bourque G , Tesler G , Pevzner PA , Smit A , Fulton LA , Mardis ER , Wilson RK
Ref : Nature , 432 :695 , 2004
Abstract : We present here a draft genome sequence of the red jungle fowl, Gallus gallus. Because the chicken is a modern descendant of the dinosaurs and the first non-mammalian amniote to have its genome sequenced, the draft sequence of its genome--composed of approximately one billion base pairs of sequence and an estimated 20,000-23,000 genes--provides a new perspective on vertebrate genome evolution, while also improving the annotation of mammalian genomes. For example, the evolutionary distance between chicken and human provides high specificity in detecting functional elements, both non-coding and coding. Notably, many conserved non-coding sequences are far from genes and cannot be assigned to defined functional classes. In coding regions the evolutionary dynamics of protein domains and orthologous groups illustrate processes that distinguish the lineages leading to birds and mammals. The distinctive properties of avian microchromosomes, together with the inferred patterns of conserved synteny, provide additional insights into vertebrate chromosome architecture.
ESTHER : Hillier_2004_Nature_432_695
PubMedSearch : Hillier_2004_Nature_432_695
PubMedID: 15592404
Gene_locus related to this paper: chick-a0a1d5pmd9 , chick-b3tzb3 , chick-BCHE , chick-cb043 , chick-d3wgl5 , chick-e1bsm0 , chick-e1bvq6 , chick-e1bwz0 , chick-e1bwz1 , chick-e1byn1 , chick-e1bz81 , chick-e1c0z8 , chick-e1c7p7 , chick-f1nby4 , chick-f1ncz8 , chick-f1ndp3 , chick-f1nep4 , chick-f1nj68 , chick-f1njg6 , chick-f1njk4 , chick-f1njs4 , chick-f1njs5 , chick-f1nk87 , chick-f1nmx9 , chick-f1ntp8 , chick-f1nvg7 , chick-f1nwf2 , chick-f1p1l1 , chick-f1p3j5 , chick-f1p4c6 , chick-f1p508 , chick-fas , chick-h9l0k6 , chick-nlgn1 , chick-NLGN3 , chick-q5f3h8 , chick-q5zhm0 , chick-q5zi81 , chick-q5zij5 , chick-q5zin0 , chick-thyro , chick-f1nrq2 , chick-e1byd4 , chick-e1c2h6 , chick-a0a1d5pk92 , chick-a0a1d5pzg7 , chick-f1nbc2 , chick-f1nf25 , chick-f1nly5 , chick-f1p4h5 , chick-f1nzi7 , chick-f1p5k3 , chick-f1nm35 , chick-a0a1d5pl11 , chick-a0a1d5pj73 , chick-f1nxu6 , chick-a0a1d5nwc0 , chick-e1bxs8 , chick-f1p2g7 , chick-f1nd96

Title : The genome sequence of Caenorhabditis briggsae: a platform for comparative genomics - Stein_2003_PLoS.Biol_1_E45
Author(s) : Stein LD , Bao Z , Blasiar D , Blumenthal T , Brent MR , Chen N , Chinwalla A , Clarke L , Clee C , Coghlan A , Coulson A , D'Eustachio P , Fitch DH , Fulton LA , Fulton RE , Griffiths-Jones S , Harris TW , Hillier LW , Kamath R , Kuwabara PE , Mardis ER , Marra MA , Miner TL , Minx P , Mullikin JC , Plumb RW , Rogers J , Schein JE , Sohrmann M , Spieth J , Stajich JE , Wei C , Willey D , Wilson RK , Durbin R , Waterston RH
Ref : PLoS Biol , 1 :E45 , 2003
Abstract : The soil nematodes Caenorhabditis briggsae and Caenorhabditis elegans diverged from a common ancestor roughly 100 million years ago and yet are almost indistinguishable by eye. They have the same chromosome number and genome sizes, and they occupy the same ecological niche. To explore the basis for this striking conservation of structure and function, we have sequenced the C. briggsae genome to a high-quality draft stage and compared it to the finished C. elegans sequence. We predict approximately 19,500 protein-coding genes in the C. briggsae genome, roughly the same as in C. elegans. Of these, 12,200 have clear C. elegans orthologs, a further 6,500 have one or more clearly detectable C. elegans homologs, and approximately 800 C. briggsae genes have no detectable matches in C. elegans. Almost all of the noncoding RNAs (ncRNAs) known are shared between the two species. The two genomes exhibit extensive colinearity, and the rate of divergence appears to be higher in the chromosomal arms than in the centers. Operons, a distinctive feature of C. elegans, are highly conserved in C. briggsae, with the arrangement of genes being preserved in 96% of cases. The difference in size between the C. briggsae (estimated at approximately 104 Mbp) and C. elegans (100.3 Mbp) genomes is almost entirely due to repetitive sequence, which accounts for 22.4% of the C. briggsae genome in contrast to 16.5% of the C. elegans genome. Few, if any, repeat families are shared, suggesting that most were acquired after the two species diverged or are undergoing rapid evolution. Coclustering the C. elegans and C. briggsae proteins reveals 2,169 protein families of two or more members. Most of these are shared between the two species, but some appear to be expanding or contracting, and there seem to be as many as several hundred novel C. briggsae gene families. The C. briggsae draft sequence will greatly improve the annotation of the C. elegans genome. Based on similarity to C. briggsae, we found strong evidence for 1,300 new C. elegans genes. In addition, comparisons of the two genomes will help to understand the evolutionary forces that mold nematode genomes.
ESTHER : Stein_2003_PLoS.Biol_1_E45
PubMedSearch : Stein_2003_PLoS.Biol_1_E45
PubMedID: 14624247
Gene_locus related to this paper: caebr-a8wl70 , caebr-a8wm66 , caebr-a8wny7 , caebr-a8wpj6 , caebr-a8wpy7.1 , caebr-a8wq91 , caebr-a8wr10 , caebr-A8WSQ5 , caebr-a8wta1 , caebr-A8WTU9 , caebr-a8wux6 , caebr-A8WX49 , caebr-a8wxx0 , caebr-a8wyd4 , caebr-a8wye8 , caebr-a8wz10 , caebr-a8wz31.1 , caebr-a8wz31.2 , caebr-a8wz31.4 , caebr-a8wzp9 , caebr-a8wzr9.1 , caebr-a8wzr9.2 , caebr-a8wzs0 , caebr-a8wzs1 , caebr-a8x0r9 , caebr-a8x0z5 , caebr-a8x1l6 , caebr-a8x1r6 , caebr-a8x3t6 , caebr-a8x4h0 , caebr-a8x4u8 , caebr-a8x4w8 , caebr-a8x5l4 , caebr-a8x5l5 , caebr-a8x5r5 , caebr-a8x5s6 , caebr-a8x5t4 , caebr-a8x6s0 , caebr-a8x6s1 , caebr-a8x7d1 , caebr-a8x7h0 , caebr-a8x7v6 , caebr-A8X8P2 , caebr-a8x8q5 , caebr-a8x8y6 , caebr-a8x9s4 , caebr-a8x324.1 , caebr-a8x324.2 , caebr-a8x622 , caebr-a8xac7 , caebr-a8xag5 , caebr-a8xb07 , caebr-a8xb88 , caebr-a8xby0 , caebr-a8xdz0 , caebr-a8xf42 , caebr-a8xfd1 , caebr-a8xfe6 , caebr-a8xgi0 , caebr-a8xgz4 , caebr-a8xgz5 , caebr-a8xh38 , caebr-a8xhp8 , caebr-a8xhx9 , caebr-a8xjw4 , caebr-a8xk02 , caebr-a8xk46 , caebr-a8xk76 , caebr-a8xke1 , caebr-A8XLQ2 , caebr-a8xns2.1 , caebr-a8xns2.2 , caebr-a8xq21 , caebr-a8xub3 , caebr-a8xuc2 , caebr-a8xuc8 , caebr-a8xug3 , caebr-a8xuh6 , caebr-a8xui4 , caebr-a8xui5 , caebr-a8xui6 , caebr-a8xui7 , caebr-a8xum8 , caebr-a8y0h0.1 , caebr-a8y0h0.2 , caebr-a8y0h1.1 , caebr-a8y0h1.2 , caebr-a8y1b5 , caebr-a8y1r7 , caebr-a8y2v4 , caebr-a8y3e3 , caebr-a8y3i5 , caebr-a8y3j9 , caebr-a8y4p9 , caebr-a8y100 , caebr-a8y101 , caebr-ACHE1 , caebr-ACHE2 , caebr-ACHE3 , caebr-ACHE4 , caebr-b6ii84 , caebr-G01D9.5 , caebr-ges1e , caebr-a8y4l4 , caebr-A8Y1T9 , caebr-A8Y168 , caebr-A8Y0Z5 , caebr-A8XYQ5 , caebr-A8XXK4 , caebr-A8XWZ8 , caebr-A8XUF0 , caebr-A8XUB6 , caebr-A8XSV2 , caebr-A8XJ37 , caebr-A8XG15 , caebr-A8XFE8 , caebr-A8XEY7 , caebr-A8XEU8 , caebr-A8XDT6 , caebr-A8XDV3 , caebr-A8XDQ3 , caebr-A8XDK8 , caebr-A8XBW4 , caebr-A8XAG3 , caebr-A8X8H5 , caebr-A8X6Z9 , caebr-A8X6H9 , caebr-A8X629 , caebr-A8X438 , caebr-A8X4G2 , caebr-A8X4H8 , caebr-A8X4W2 , caebr-A8X3P4 , caebr-A8X3R1 , caebr-A8X2Z4 , caebr-A8X0N2 , caebr-A8X0B3 , caebr-A8WW80 , caebr-U483 , caebr-A8XPH6 , caebr-A8XNJ0 , caebr-A8XNA2 , caebr-A8XLP0 , caebr-A8XK33 , caebr-A8WTK6 , caebr-A8WU44 , caebr-A8WPJ2 , caebr-A8WNE5 , caebr-A8WMB3 , caebr-a8x1r2

Title : The DNA sequence of human chromosome 7 - Hillier_2003_Nature_424_157
Author(s) : Hillier LW , Fulton RS , Fulton LA , Graves TA , Pepin KH , Wagner-McPherson C , Layman D , Maas J , Jaeger S , Walker R , Wylie K , Sekhon M , Becker MC , O'Laughlin MD , Schaller ME , Fewell GA , Delehaunty KD , Miner TL , Nash WE , Cordes M , Du H , Sun H , Edwards J , Bradshaw-Cordum H , Ali J , Andrews S , Isak A , Vanbrunt A , Nguyen C , Du F , Lamar B , Courtney L , Kalicki J , Ozersky P , Bielicki L , Scott K , Holmes A , Harkins R , Harris A , Strong CM , Hou S , Tomlinson C , Dauphin-Kohlberg S , Kozlowicz-Reilly A , Leonard S , Rohlfing T , Rock SM , Tin-Wollam AM , Abbott A , Minx P , Maupin R , Strowmatt C , Latreille P , Miller N , Johnson D , Murray J , Woessner JP , Wendl MC , Yang SP , Schultz BR , Wallis JW , Spieth J , Bieri TA , Nelson JO , Berkowicz N , Wohldmann PE , Cook LL , Hickenbotham MT , Eldred J , Williams D , Bedell JA , Mardis ER , Clifton SW , Chissoe SL , Marra MA , Raymond C , Haugen E , Gillett W , Zhou Y , James R , Phelps K , Iadanoto S , Bubb K , Simms E , Levy R , Clendenning J , Kaul R , Kent WJ , Furey TS , Baertsch RA , Brent MR , Keibler E , Flicek P , Bork P , Suyama M , Bailey JA , Portnoy ME , Torrents D , Chinwalla AT , Gish WR , Eddy SR , McPherson JD , Olson MV , Eichler EE , Green ED , Waterston RH , Wilson RK
Ref : Nature , 424 :157 , 2003
Abstract : Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present more than 153 million base pairs representing 99.4% of the euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far. The sequence has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence (8.2%), with marked differences between the two arms. Our initial analyses have identified 1,150 protein-coding genes, 605 of which have been confirmed by complementary DNA sequences, and an additional 941 pseudogenes. Of genes confirmed by transcript sequences, some are polymorphic for mutations that disrupt the reading frame.
ESTHER : Hillier_2003_Nature_424_157
PubMedSearch : Hillier_2003_Nature_424_157
PubMedID: 12853948
Gene_locus related to this paper: human-ABHD11 , human-ACHE , human-CPVL , human-DPP6 , human-MEST