Zody MC

References (12)

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 : Genome sequence, comparative analysis, and population genetics of the domestic horse - Wade_2009_Science_326_865
Author(s) : Wade CM , Giulotto E , Sigurdsson S , Zoli M , Gnerre S , Imsland F , Lear TL , Adelson DL , Bailey E , Bellone RR , Blocker H , Distl O , Edgar RC , Garber M , Leeb T , Mauceli E , MacLeod JN , Penedo MC , Raison JM , Sharpe T , Vogel J , Andersson L , Antczak DF , Biagi T , Binns MM , Chowdhary BP , Coleman SJ , Della Valle G , Fryc S , Guerin G , Hasegawa T , Hill EW , Jurka J , Kiialainen A , Lindgren G , Liu J , Magnani E , Mickelson JR , Murray J , Nergadze SG , Onofrio R , Pedroni S , Piras MF , Raudsepp T , Rocchi M , Roed KH , Ryder OA , Searle S , Skow L , Swinburne JE , Syvanen AC , Tozaki T , Valberg SJ , Vaudin M , White JR , Zody MC , Lander ES , Lindblad-Toh K
Ref : Science , 326 :865 , 2009
Abstract : We report a high-quality draft sequence of the genome of the horse (Equus caballus). The genome is relatively repetitive but has little segmental duplication. Chromosomes appear to have undergone few historical rearrangements: 53% of equine chromosomes show conserved synteny to a single human chromosome. Equine chromosome 11 is shown to have an evolutionary new centromere devoid of centromeric satellite DNA, suggesting that centromeric function may arise before satellite repeat accumulation. Linkage disequilibrium, showing the influences of early domestication of large herds of female horses, is intermediate in length between dog and human, and there is long-range haplotype sharing among breeds.
ESTHER : Wade_2009_Science_326_865
PubMedSearch : Wade_2009_Science_326_865
PubMedID: 19892987
Gene_locus related to this paper: horse-1plip , horse-2plrp , horse-ACHE , horse-BCHE , horse-f6pri5 , horse-f6qlk6 , horse-f6qsc5 , horse-f6r958 , horse-f6sfg0 , horse-f6uif6 , horse-f6un85 , horse-f6vxp7 , horse-f6wfs9 , horse-f6wzv8 , horse-f6x0i7 , horse-f6x5e5 , horse-f6zmg7 , horse-f7afw6 , horse-f7agv7 , horse-f7bj10 , horse-f7bk45 , horse-f7bvl6 , horse-f7c7a8 , horse-f7cdt1 , horse-f7cxj0 , horse-f6ut17 , horse-f6svq9 , horse-f6xgj6 , horse-f6s101 , horse-f6wfa7 , horse-f7cpx3 , horse-f7adj7 , horse-f6r609 , horse-f6y0j2 , horse-f6zvb2 , horse-f7e4g0 , horse-f6ti02 , horse-f6re01 , horse-f6xmp6 , horse-f6vts1 , horse-f6quf7 , horse-f6tn81 , horse-f7bm46 , horse-f6q1u3 , horse-f6zna7 , horse-f6q208 , horse-f7cuh0 , horse-f6tq73 , horse-f6xa70 , horse-f6qj19 , horse-f6wgf3 , horse-f7d8t6 , horse-f6ul42 , horse-f7am73 , horse-f7dme2

Title : Genome sequence and analysis of the Irish potato famine pathogen Phytophthora infestans - Haas_2009_Nature_461_393
Author(s) : Haas BJ , Kamoun S , Zody MC , Jiang RH , Handsaker RE , Cano LM , Grabherr M , Kodira CD , Raffaele S , Torto-Alalibo T , Bozkurt TO , Ah-Fong AM , Alvarado L , Anderson VL , Armstrong MR , Avrova A , Baxter L , Beynon J , Boevink PC , Bollmann SR , Bos JI , Bulone V , Cai G , Cakir C , Carrington JC , Chawner M , Conti L , Costanzo S , Ewan R , Fahlgren N , Fischbach MA , Fugelstad J , Gilroy EM , Gnerre S , Green PJ , Grenville-Briggs LJ , Griffith J , Grunwald NJ , Horn K , Horner NR , Hu CH , Huitema E , Jeong DH , Jones AM , Jones JD , Jones RW , Karlsson EK , Kunjeti SG , Lamour K , Liu Z , Ma L , Maclean D , Chibucos MC , McDonald H , McWalters J , Meijer HJ , Morgan W , Morris PF , Munro CA , O'Neill K , Ospina-Giraldo M , Pinzon A , Pritchard L , Ramsahoye B , Ren Q , Restrepo S , Roy S , Sadanandom A , Savidor A , Schornack S , Schwartz DC , Schumann UD , Schwessinger B , Seyer L , Sharpe T , Silvar C , Song J , Studholme DJ , Sykes S , Thines M , van de Vondervoort PJ , Phuntumart V , Wawra S , Weide R , Win J , Young C , Zhou S , Fry W , Meyers BC , van West P , Ristaino J , Govers F , Birch PR , Whisson SC , Judelson HS , Nusbaum C
Ref : Nature , 461 :393 , 2009
Abstract : Phytophthora infestans is the most destructive pathogen of potato and a model organism for the oomycetes, a distinct lineage of fungus-like eukaryotes that are related to organisms such as brown algae and diatoms. As the agent of the Irish potato famine in the mid-nineteenth century, P. infestans has had a tremendous effect on human history, resulting in famine and population displacement. To this day, it affects world agriculture by causing the most destructive disease of potato, the fourth largest food crop and a critical alternative to the major cereal crops for feeding the world's population. Current annual worldwide potato crop losses due to late blight are conservatively estimated at $$6.7 billion. Management of this devastating pathogen is challenged by its remarkable speed of adaptation to control strategies such as genetically resistant cultivars. Here we report the sequence of the P. infestans genome, which at approximately 240 megabases (Mb) is by far the largest and most complex genome sequenced so far in the chromalveolates. Its expansion results from a proliferation of repetitive DNA accounting for approximately 74% of the genome. Comparison with two other Phytophthora genomes showed rapid turnover and extensive expansion of specific families of secreted disease effector proteins, including many genes that are induced during infection or are predicted to have activities that alter host physiology. These fast-evolving effector genes are localized to highly dynamic and expanded regions of the P. infestans genome. This probably plays a crucial part in the rapid adaptability of the pathogen to host plants and underpins its evolutionary potential.
ESTHER : Haas_2009_Nature_461_393
PubMedSearch : Haas_2009_Nature_461_393
PubMedID: 19741609
Gene_locus related to this paper: phyin-ENDO2 , phyin-q2m440 , phyin-q58g92 , phyit-d0mqp1 , phyit-d0mqp2 , phyit-d0mt75 , phyit-d0muv1 , phyit-d0mv34 , phyit-d0mv35 , phyit-d0mwf9 , phyit-d0mxu5 , phyit-d0n935 , phyit-d0nax9 , phyit-d0nfs3 , phyit-d0nhj2 , phyit-d0nhj4 , phyit-d0nhj8 , phyit-d0ni28 , phyit-d0nj14 , phyit-d0nj53 , phyit-d0nj54 , phyit-d0njf2 , phyit-d0nkm4 , phyit-d0nr53 , phyit-d0nrb1 , phyit-d0nrk9 , phyit-d0nrl4 , phyit-d0ns26 , phyit-d0ns42 , phyit-d0ns43 , phyit-d0nsr8 , phyit-d0nu41 , phyit-d0nvt3 , phyit-d0nwb6 , phyit-d0nwm8 , phyit-d0nzc0 , phyit-d0nzc1 , phyit-d0p0z1 , phyit-d0p3z2 , phyit-kex1 , phyit-d0n6q6 , phyit-d0n4i8 , phyit-d0mqf7 , phyit-d0n5g6

Title : Lineage-specific biology revealed by a finished genome assembly of the mouse - Church_2009_PLoS.Biol_7_e1000112
Author(s) : Church DM , Goodstadt L , Hillier LW , Zody MC , Goldstein S , She X , Bult CJ , Agarwala R , Cherry JL , DiCuccio M , Hlavina W , Kapustin Y , Meric P , Maglott D , Birtle Z , Marques AC , Graves T , Zhou S , Teague B , Potamousis K , Churas C , Place M , Herschleb J , Runnheim R , Forrest D , Amos-Landgraf J , Schwartz DC , Cheng Z , Lindblad-Toh K , Eichler EE , Ponting CP
Ref : PLoS Biol , 7 :e1000112 , 2009
Abstract : The mouse (Mus musculus) is the premier animal model for understanding human disease and development. Here we show that a comprehensive understanding of mouse biology is only possible with the availability of a finished, high-quality genome assembly. The finished clone-based assembly of the mouse strain C57BL/6J reported here has over 175,000 fewer gaps and over 139 Mb more of novel sequence, compared with the earlier MGSCv3 draft genome assembly. In a comprehensive analysis of this revised genome sequence, we are now able to define 20,210 protein-coding genes, over a thousand more than predicted in the human genome (19,042 genes). In addition, we identified 439 long, non-protein-coding RNAs with evidence for transcribed orthologs in human. We analyzed the complex and repetitive landscape of 267 Mb of sequence that was missing or misassembled in the previously published assembly, and we provide insights into the reasons for its resistance to sequencing and assembly by whole-genome shotgun approaches. Duplicated regions within newly assembled sequence tend to be of more recent ancestry than duplicates in the published draft, correcting our initial understanding of recent evolution on the mouse lineage. These duplicates appear to be largely composed of sequence regions containing transposable elements and duplicated protein-coding genes; of these, some may be fixed in the mouse population, but at least 40% of segmentally duplicated sequences are copy number variable even among laboratory mouse strains. Mouse lineage-specific regions contain 3,767 genes drawn mainly from rapidly-changing gene families associated with reproductive functions. The finished mouse genome assembly, therefore, greatly improves our understanding of rodent-specific biology and allows the delineation of ancestral biological functions that are shared with human from derived functions that are not.
ESTHER : Church_2009_PLoS.Biol_7_e1000112
PubMedSearch : Church_2009_PLoS.Biol_7_e1000112
PubMedID: 19468303
Gene_locus related to this paper: mouse-1neur , mouse-2neur , mouse-abd12 , mouse-abhd3 , mouse-abhd5 , mouse-acnt1 , mouse-adcl3 , mouse-bphl , mouse-c1ib , mouse-cauxin , mouse-Ces1a , mouse-Ces1b , mouse-Ces1c , mouse-Ces1e , mouse-Ces1h , mouse-Ces2a , mouse-Ces2c , mouse-Ces2f , mouse-Ces2g , mouse-Ces2h , mouse-Ces3b , mouse-Ces4a , mouse-CMBL , mouse-Dorz1 , mouse-DPP6 , mouse-dpp10 , mouse-ephx4 , mouse-g3uzn6 , mouse-KFA , mouse-LIPN , mouse-Lipo2 , mouse-Lipo4 , mouse-MEST , mouse-ndr1 , mouse-ndr4 , mouse-notum , mouse-q3uuq7 , mouse-Q8C1A9 , mouse-Q9DAI6 , mouse-SERHL , mouse-Tex30 , mouse-thyro , mouse-tmco4 , mouse-b1avu7 , mouse-b2rwd2 , mouse-j3qpi0 , mouse-w4vsp6 , mouse-f172a , mouse-f6yqt7

Title : Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences - Mikkelsen_2007_Nature_447_167
Author(s) : Mikkelsen TS , Wakefield MJ , Aken B , Amemiya CT , Chang JL , Duke S , Garber M , Gentles AJ , Goodstadt L , Heger A , Jurka J , Kamal M , Mauceli E , Searle SM , Sharpe T , Baker ML , Batzer MA , Benos PV , Belov K , Clamp M , Cook A , Cuff J , Das R , Davidow L , Deakin JE , Fazzari MJ , Glass JL , Grabherr M , Greally JM , Gu W , Hore TA , Huttley GA , Kleber M , Jirtle RL , Koina E , Lee JT , Mahony S , Marra MA , Miller RD , Nicholls RD , Oda M , Papenfuss AT , Parra ZE , Pollock DD , Ray DA , Schein JE , Speed TP , Thompson K , Vandeberg JL , Wade CM , Walker JA , Waters PD , Webber C , Weidman JR , Xie X , Zody MC , Graves JA , Ponting CP , Breen M , Samollow PB , Lander ES , Lindblad-Toh K
Ref : Nature , 447 :167 , 2007
Abstract : We report a high-quality draft of the genome sequence of the grey, short-tailed opossum (Monodelphis domestica). As the first metatherian ('marsupial') species to be sequenced, the opossum provides a unique perspective on the organization and evolution of mammalian genomes. Distinctive features of the opossum chromosomes provide support for recent theories about genome evolution and function, including a strong influence of biased gene conversion on nucleotide sequence composition, and a relationship between chromosomal characteristics and X chromosome inactivation. Comparison of opossum and eutherian genomes also reveals a sharp difference in evolutionary innovation between protein-coding and non-coding functional elements. True innovation in protein-coding genes seems to be relatively rare, with lineage-specific differences being largely due to diversification and rapid turnover in gene families involved in environmental interactions. In contrast, about 20% of eutherian conserved non-coding elements (CNEs) are recent inventions that postdate the divergence of Eutheria and Metatheria. A substantial proportion of these eutherian-specific CNEs arose from sequence inserted by transposable elements, pointing to transposons as a major creative force in the evolution of mammalian gene regulation.
ESTHER : Mikkelsen_2007_Nature_447_167
PubMedSearch : Mikkelsen_2007_Nature_447_167
PubMedID: 17495919
Gene_locus related to this paper: mondo-ACHE , mondo-b2bsf5 , mondo-b2bsz5 , mondo-BCHE , mondo-d2x2i6 , mondo-d2x2i8 , mondo-f6slk2 , mondo-f6wu00 , mondo-f6wuf2 , mondo-f6xfj4 , mondo-f6yt13 , mondo-f7c7p0 , mondo-f7ckd0 , mondo-f7cvq8 , mondo-f7cvr5 , mondo-f7eil6 , mondo-f7ez13 , mondo-f7f0i7 , mondo-f7fg16 , mondo-f7gcv7 , mondo-f7gep4 , mondo-f7gly2 , mondo-f6u7q2 , mondo-f7fw54 , mondo-f7dpf6 , mondo-f6pgj5 , mondo-f6yg68 , mondo-f7g8u4 , mondo-f7eyv1 , mondo-f6pq73 , mondo-f7cre0 , mondo-f7fdj0 , mondo-f7fdj5 , mondo-f7ft63 , mondo-f7ge99 , mondo-f7gea2 , mondo-f6pxq2 , mondo-f7awc1 , mondo-f7c412 , mondo-f7ev24 , mondo-f7b6s6 , mondo-f6vcx0 , mondo-f7g148 , mondo-f6tlv9 , mondo-f6tdm5 , mondo-f7f3w0 , mondo-f7fg39 , mondo-f7d6c2 , mondo-f6sdn0 , mondo-f7gi08 , mondo-f6xss6 , mondo-f6sa37 , mondo-f7gd97 , mondo-f6z6x9

Title : Human chromosome 11 DNA sequence and analysis including novel gene identification - Taylor_2006_Nature_440_497
Author(s) : Taylor TD , Noguchi H , Totoki Y , Toyoda A , Kuroki Y , Dewar K , Lloyd C , Itoh T , Takeda T , Kim DW , She X , Barlow KF , Bloom T , Bruford E , Chang JL , Cuomo CA , Eichler E , Fitzgerald MG , Jaffe DB , LaButti K , Nicol R , Park HS , Seaman C , Sougnez C , Yang X , Zimmer AR , Zody MC , Birren BW , Nusbaum C , Fujiyama A , Hattori M , Rogers J , Lander ES , Sakaki Y
Ref : Nature , 440 :497 , 2006
Abstract : Chromosome 11, although average in size, is one of the most gene- and disease-rich chromosomes in the human genome. Initial gene annotation indicates an average gene density of 11.6 genes per megabase, including 1,524 protein-coding genes, some of which were identified using novel methods, and 765 pseudogenes. One-quarter of the protein-coding genes shows overlap with other genes. Of the 856 olfactory receptor genes in the human genome, more than 40% are located in 28 single- and multi-gene clusters along this chromosome. Out of the 171 disorders currently attributed to the chromosome, 86 remain for which the underlying molecular basis is not yet known, including several mendelian traits, cancer and susceptibility loci. The high-quality data presented here--nearly 134.5 million base pairs representing 99.8% coverage of the euchromatic sequence--provide scientists with a solid foundation for understanding the genetic basis of these disorders and other biological phenomena.
ESTHER : Taylor_2006_Nature_440_497
PubMedSearch : Taylor_2006_Nature_440_497
PubMedID: 16554811
Gene_locus related to this paper: human-PRCP

Title : DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage - Zody_2006_Nature_440_1045
Author(s) : Zody MC , Garber M , Adams DJ , Sharpe T , Harrow J , Lupski JR , Nicholson C , Searle SM , Wilming L , Young SK , Abouelleil A , Allen NR , Bi W , Bloom T , Borowsky ML , Bugalter BE , Butler J , Chang JL , Chen CK , Cook A , Corum B , Cuomo CA , de Jong PJ , Decaprio D , Dewar K , FitzGerald M , Gilbert J , Gibson R , Gnerre S , Goldstein S , Grafham DV , Grocock R , Hafez N , Hagopian DS , Hart E , Norman CH , Humphray S , Jaffe DB , Jones M , Kamal M , Khodiyar VK , LaButti K , Laird G , Lehoczky J , Liu X , Lokyitsang T , Loveland J , Lui A , Macdonald P , Major JE , Matthews L , Mauceli E , McCarroll SA , Mihalev AH , Mudge J , Nguyen C , Nicol R , O'Leary SB , Osoegawa K , Schwartz DC , Shaw-Smith C , Stankiewicz P , Steward C , Swarbreck D , Venkataraman V , Whittaker CA , Yang X , Zimmer AR , Bradley A , Hubbard T , Birren BW , Rogers J , Lander ES , Nusbaum C
Ref : Nature , 440 :1045 , 2006
Abstract : Chromosome 17 is unusual among the human chromosomes in many respects. It is the largest human autosome with orthology to only a single mouse chromosome, mapping entirely to the distal half of mouse chromosome 11. Chromosome 17 is rich in protein-coding genes, having the second highest gene density in the genome. It is also enriched in segmental duplications, ranking third in density among the autosomes. Here we report a finished sequence for human chromosome 17, as well as a structural comparison with the finished sequence for mouse chromosome 11, the first finished mouse chromosome. Comparison of the orthologous regions reveals striking differences. In contrast to the typical pattern seen in mammalian evolution, the human sequence has undergone extensive intrachromosomal rearrangement, whereas the mouse sequence has been remarkably stable. Moreover, although the human sequence has a high density of segmental duplication, the mouse sequence has a very low density. Notably, these segmental duplications correspond closely to the sites of structural rearrangement, demonstrating a link between duplication and rearrangement. Examination of the main classes of duplicated segments provides insight into the dynamics underlying expansion of chromosome-specific, low-copy repeats in the human genome.
ESTHER : Zody_2006_Nature_440_1045
PubMedSearch : Zody_2006_Nature_440_1045
PubMedID: 16625196
Gene_locus related to this paper: human-NLGN2 , human-NOTUM

Title : Analysis of the DNA sequence and duplication history of human chromosome 15 - Zody_2006_Nature_440_671
Author(s) : Zody MC , Garber M , Sharpe T , Young SK , Rowen L , O'Neill K , Whittaker CA , Kamal M , Chang JL , Cuomo CA , Dewar K , Fitzgerald MG , Kodira CD , Madan A , Qin S , Yang X , Abbasi N , Abouelleil A , Arachchi HM , Baradarani L , Birditt B , Bloom S , Bloom T , Borowsky ML , Burke J , Butler J , Cook A , DeArellano K , Decaprio D , Dorris L, 3rd , Dors M , Eichler EE , Engels R , Fahey J , Fleetwood P , Friedman C , Gearin G , Hall JL , Hensley G , Johnson E , Jones C , Kamat A , Kaur A , Locke DP , Munson G , Jaffe DB , Lui A , Macdonald P , Mauceli E , Naylor JW , Nesbitt R , Nicol R , O'Leary SB , Ratcliffe A , Rounsley S , She X , Sneddon KM , Stewart S , Sougnez C , Stone SM , Topham K , Vincent D , Wang S , Zimmer AR , Birren BW , Hood L , Lander ES , Nusbaum C
Ref : Nature , 440 :671 , 2006
Abstract : Here we present a finished sequence of human chromosome 15, together with a high-quality gene catalogue. As chromosome 15 is one of seven human chromosomes with a high rate of segmental duplication, we have carried out a detailed analysis of the duplication structure of the chromosome. Segmental duplications in chromosome 15 are largely clustered in two regions, on proximal and distal 15q; the proximal region is notable because recombination among the segmental duplications can result in deletions causing Prader-Willi and Angelman syndromes. Sequence analysis shows that the proximal and distal regions of 15q share extensive ancient similarity. Using a simple approach, we have been able to reconstruct many of the events by which the current duplication structure arose. We find that most of the intrachromosomal duplications seem to share a common ancestry. Finally, we demonstrate that some remaining gaps in the genome sequence are probably due to structural polymorphisms between haplotypes; this may explain a significant fraction of the gaps remaining in the human genome.
ESTHER : Zody_2006_Nature_440_671
PubMedSearch : Zody_2006_Nature_440_671
PubMedID: 16572171
Gene_locus related to this paper: human-DPP8 , human-LIPC , human-SPG21

Title : DNA sequence and analysis of human chromosome 8 - Nusbaum_2006_Nature_439_331
Author(s) : Nusbaum C , Mikkelsen TS , Zody MC , Asakawa S , Taudien S , Garber M , Kodira CD , Schueler MG , Shimizu A , Whittaker CA , Chang JL , Cuomo CA , Dewar K , Fitzgerald MG , Yang X , Allen NR , Anderson S , Asakawa T , Blechschmidt K , Bloom T , Borowsky ML , Butler J , Cook A , Corum B , DeArellano K , Decaprio D , Dooley KT , Dorris L, 3rd , Engels R , Glockner G , Hafez N , Hagopian DS , Hall JL , Ishikawa SK , Jaffe DB , Kamat A , Kudoh J , Lehmann R , Lokitsang T , Macdonald P , Major JE , Matthews CD , Mauceli E , Menzel U , Mihalev AH , Minoshima S , Murayama Y , Naylor JW , Nicol R , Nguyen C , O'Leary SB , O'Neill K , Parker SC , Polley A , Raymond CK , Reichwald K , Rodriguez J , Sasaki T , Schilhabel M , Siddiqui R , Smith CL , Sneddon TP , Talamas JA , Tenzin P , Topham K , Venkataraman V , Wen G , Yamazaki S , Young SK , Zeng Q , Zimmer AR , Rosenthal A , Birren BW , Platzer M , Shimizu N , Lander ES
Ref : Nature , 439 :331 , 2006
Abstract : The International Human Genome Sequencing Consortium (IHGSC) recently completed a sequence of the human genome. As part of this project, we have focused on chromosome 8. Although some chromosomes exhibit extreme characteristics in terms of length, gene content, repeat content and fraction segmentally duplicated, chromosome 8 is distinctly typical in character, being very close to the genome median in each of these aspects. This work describes a finished sequence and gene catalogue for the chromosome, which represents just over 5% of the euchromatic human genome. A unique feature of the chromosome is a vast region of approximately 15 megabases on distal 8p that appears to have a strikingly high mutation rate, which has accelerated in the hominids relative to other sequenced mammals. This fast-evolving region contains a number of genes related to innate immunity and the nervous system, including loci that appear to be under positive selection--these include the major defensin (DEF) gene cluster and MCPH1, a gene that may have contributed to the evolution of expanded brain size in the great apes. The data from chromosome 8 should allow a better understanding of both normal and disease biology and genome evolution.
ESTHER : Nusbaum_2006_Nature_439_331
PubMedSearch : Nusbaum_2006_Nature_439_331
PubMedID: 16421571
Gene_locus related to this paper: human-TG

Title : Genome sequence, comparative analysis and haplotype structure of the domestic dog - Lindblad-Toh_2005_Nature_438_803
Author(s) : Lindblad-Toh K , Wade CM , Mikkelsen TS , Karlsson EK , Jaffe DB , Kamal M , Clamp M , Chang JL , Kulbokas EJ, 3rd , Zody MC , Mauceli E , Xie X , Breen M , Wayne RK , Ostrander EA , Ponting CP , Galibert F , Smith DR , deJong PJ , Kirkness E , Alvarez P , Biagi T , Brockman W , Butler J , Chin CW , Cook A , Cuff J , Daly MJ , Decaprio D , Gnerre S , Grabherr M , Kellis M , Kleber M , Bardeleben C , Goodstadt L , Heger A , Hitte C , Kim L , Koepfli KP , Parker HG , Pollinger JP , Searle SM , Sutter NB , Thomas R , Webber C , Baldwin J , Abebe A , Abouelleil A , Aftuck L , Ait-Zahra M , Aldredge T , Allen N , An P , Anderson S , Antoine C , Arachchi H , Aslam A , Ayotte L , Bachantsang P , Barry A , Bayul T , Benamara M , Berlin A , Bessette D , Blitshteyn B , Bloom T , Blye J , Boguslavskiy L , Bonnet C , Boukhgalter B , Brown A , Cahill P , Calixte N , Camarata J , Cheshatsang Y , Chu J , Citroen M , Collymore A , Cooke P , Dawoe T , Daza R , Decktor K , DeGray S , Dhargay N , Dooley K , Dorje P , Dorjee K , Dorris L , Duffey N , Dupes A , Egbiremolen O , Elong R , Falk J , Farina A , Faro S , Ferguson D , Ferreira P , Fisher S , FitzGerald M , Foley K , Foley C , Franke A , Friedrich D , Gage D , Garber M , Gearin G , Giannoukos G , Goode T , Goyette A , Graham J , Grandbois E , Gyaltsen K , Hafez N , Hagopian D , Hagos B , Hall J , Healy C , Hegarty R , Honan T , Horn A , Houde N , Hughes L , Hunnicutt L , Husby M , Jester B , Jones C , Kamat A , Kanga B , Kells C , Khazanovich D , Kieu AC , Kisner P , Kumar M , Lance K , Landers T , Lara M , Lee W , Leger JP , Lennon N , Leuper L , LeVine S , Liu J , Liu X , Lokyitsang Y , Lokyitsang T , Lui A , MacDonald J , Major J , Marabella R , Maru K , Matthews C , McDonough S , Mehta T , Meldrim J , Melnikov A , Meneus L , Mihalev A , Mihova T , Miller K , Mittelman R , Mlenga V , Mulrain L , Munson G , Navidi A , Naylor J , Nguyen T , Nguyen N , Nguyen C , Nicol R , Norbu N , Norbu C , Novod N , Nyima T , Olandt P , O'Neill B , O'Neill K , Osman S , Oyono L , Patti C , Perrin D , Phunkhang P , Pierre F , Priest M , Rachupka A , Raghuraman S , Rameau R , Ray V , Raymond C , Rege F , Rise C , Rogers J , Rogov P , Sahalie J , Settipalli S , Sharpe T , Shea T , Sheehan M , Sherpa N , Shi J , Shih D , Sloan J , Smith C , Sparrow T , Stalker J , Stange-Thomann N , Stavropoulos S , Stone C , Stone S , Sykes S , Tchuinga P , Tenzing P , Tesfaye S , Thoulutsang D , Thoulutsang Y , Topham K , Topping I , Tsamla T , Vassiliev H , Venkataraman V , Vo A , Wangchuk T , Wangdi T , Weiand M , Wilkinson J , Wilson A , Yadav S , Yang S , Yang X , Young G , Yu Q , Zainoun J , Zembek L , Zimmer A , Lander ES
Ref : Nature , 438 :803 , 2005
Abstract : Here we report a high-quality draft genome sequence of the domestic dog (Canis familiaris), together with a dense map of single nucleotide polymorphisms (SNPs) across breeds. The dog is of particular interest because it provides important evolutionary information and because existing breeds show great phenotypic diversity for morphological, physiological and behavioural traits. We use sequence comparison with the primate and rodent lineages to shed light on the structure and evolution of genomes and genes. Notably, the majority of the most highly conserved non-coding sequences in mammalian genomes are clustered near a small subset of genes with important roles in development. Analysis of SNPs reveals long-range haplotypes across the entire dog genome, and defines the nature of genetic diversity within and across breeds. The current SNP map now makes it possible for genome-wide association studies to identify genes responsible for diseases and traits, with important consequences for human and companion animal health.
ESTHER : Lindblad-Toh_2005_Nature_438_803
PubMedSearch : Lindblad-Toh_2005_Nature_438_803
PubMedID: 16341006
Gene_locus related to this paper: canfa-1lipg , canfa-2neur , canfa-3neur , canfa-ACHE , canfa-BCHE , canfa-cauxin , canfa-CESDD1 , canfa-e2qsb1 , canfa-e2qsl3 , canfa-e2qsz2 , canfa-e2qvk3 , canfa-e2qw15 , canfa-e2qxs8 , canfa-e2qzs6 , canfa-e2r5t3 , canfa-e2r6f6 , canfa-e2r7e8 , canfa-e2r8v9 , canfa-e2r8z1 , canfa-e2r9h4 , canfa-e2r455 , canfa-e2rb70 , canfa-e2rcq9 , canfa-e2rd94 , canfa-e2rgi0 , canfa-e2rkq0 , canfa-e2rlz9 , canfa-e2rm00 , canfa-e2rqf1 , canfa-e2rss9 , canfa-f1p6w8 , canfa-f1p8b6 , canfa-f1p9d8 , canfa-f1p683 , canfa-f1pb79 , canfa-f1pgw0 , canfa-f1phd0 , canfa-f1phx2 , canfa-f1pke8 , canfa-f1pp08 , canfa-f1ppp9 , canfa-f1ps07 , canfa-f1ptf1 , canfa-f1pvp4 , canfa-f1pw93 , canfa-f1pwk3 , canfa-pafa , canfa-q1ert3 , canfa-q5jzr0 , canfa-e2rmb9 , canlf-f6v865 , canlf-e2rjg6 , canlf-e2r2h2 , canlf-f1p648 , canlf-f1pw90 , canlf-j9p8v6 , canlf-f1pcc4 , canlf-e2qxh0 , canlf-e2r774 , canlf-f1pf96 , canlf-e2rq56 , canlf-j9nwb1 , canlf-f1ptw2 , canlf-j9p8h1 , canlf-e2ree2 , canlf-f1prs1 , canlf-j9nus1 , canlf-e2rf91 , canlf-f1pg57 , canlf-f1q111

Title : DNA sequence and analysis of human chromosome 18 - Nusbaum_2005_Nature_437_551
Author(s) : Nusbaum C , Zody MC , Borowsky ML , Kamal M , Kodira CD , Taylor TD , Whittaker CA , Chang JL , Cuomo CA , Dewar K , Fitzgerald MG , Yang X , Abouelleil A , Allen NR , Anderson S , Bloom T , Bugalter B , Butler J , Cook A , Decaprio D , Engels R , Garber M , Gnirke A , Hafez N , Hall JL , Norman CH , Itoh T , Jaffe DB , Kuroki Y , Lehoczky J , Lui A , Macdonald P , Mauceli E , Mikkelsen TS , Naylor JW , Nicol R , Nguyen C , Noguchi H , O'Leary SB , O'Neill K , Piqani B , Smith CL , Talamas JA , Topham K , Totoki Y , Toyoda A , Wain HM , Young SK , Zeng Q , Zimmer AR , Fujiyama A , Hattori M , Birren BW , Sakaki Y , Lander ES
Ref : Nature , 437 :551 , 2005
Abstract : Chromosome 18 appears to have the lowest gene density of any human chromosome and is one of only three chromosomes for which trisomic individuals survive to term. There are also a number of genetic disorders stemming from chromosome 18 trisomy and aneuploidy. Here we report the finished sequence and gene annotation of human chromosome 18, which will allow a better understanding of the normal and disease biology of this chromosome. Despite the low density of protein-coding genes on chromosome 18, we find that the proportion of non-protein-coding sequences evolutionarily conserved among mammals is close to the genome-wide average. Extending this analysis to the entire human genome, we find that the density of conserved non-protein-coding sequences is largely uncorrelated with gene density. This has important implications for the nature and roles of non-protein-coding sequence elements.
ESTHER : Nusbaum_2005_Nature_437_551
PubMedSearch : Nusbaum_2005_Nature_437_551
PubMedID: 16177791
Gene_locus related to this paper: human-LIPG

Title : Genome duplication in the teleost fish Tetraodon nigroviridis reveals the early vertebrate proto-karyotype - Jaillon_2004_Nature_431_946
Author(s) : Jaillon O , Aury JM , Brunet F , Petit JL , Stange-Thomann N , Mauceli E , Bouneau L , Fischer C , Ozouf-Costaz C , Bernot A , Nicaud S , Jaffe D , Fisher S , Lutfalla G , Dossat C , Segurens B , Dasilva C , Salanoubat M , Levy M , Boudet N , Castellano S , Anthouard V , Jubin C , Castelli V , Katinka M , Vacherie B , Biemont C , Skalli Z , Cattolico L , Poulain J , de Berardinis V , Cruaud C , Duprat S , Brottier P , Coutanceau JP , Gouzy J , Parra G , Lardier G , Chapple C , McKernan KJ , McEwan P , Bosak S , Kellis M , Volff JN , Guigo R , Zody MC , Mesirov J , Lindblad-Toh K , Birren B , Nusbaum C , Kahn D , Robinson-Rechavi M , Laudet V , Schachter V , Quetier F , Saurin W , Scarpelli C , Wincker P , Lander ES , Weissenbach J , Roest Crollius H
Ref : Nature , 431 :946 , 2004
Abstract : Tetraodon nigroviridis is a freshwater puffer fish with the smallest known vertebrate genome. Here, we report a draft genome sequence with long-range linkage and substantial anchoring to the 21 Tetraodon chromosomes. Genome analysis provides a greatly improved fish gene catalogue, including identifying key genes previously thought to be absent in fish. Comparison with other vertebrates and a urochordate indicates that fish proteins have diverged markedly faster than their mammalian homologues. Comparison with the human genome suggests approximately 900 previously unannotated human genes. Analysis of the Tetraodon and human genomes shows that whole-genome duplication occurred in the teleost fish lineage, subsequent to its divergence from mammals. The analysis also makes it possible to infer the basic structure of the ancestral bony vertebrate genome, which was composed of 12 chromosomes, and to reconstruct much of the evolutionary history of ancient and recent chromosome rearrangements leading to the modern human karyotype.
ESTHER : Jaillon_2004_Nature_431_946
PubMedSearch : Jaillon_2004_Nature_431_946
PubMedID: 15496914
Gene_locus related to this paper: tetng-3neur , tetng-4neur , tetng-ACHE , tetng-BCHE , tetng-h3cfz4 , tetng-h3ci57 , tetng-h3cl30 , tetng-h3cnh2 , tetng-nlgn2b , tetng-h3czr1 , tetng-h3dbr5 , tetng-nlgn2a , tetng-nlgn3b , tetng-q4ref8 , tetng-q4rjp3 , tetng-q4rjy3 , tetng-q4rk53 , tetng-q4rk63 , tetng-q4rk66 , tetng-q4rkk3 , tetng-q4rli3 , tetng-q4rn09 , tetng-q4rqj4 , tetng-q4rqz6 , tetng-q4rr22 , tetng-q4rru9 , tetng-q4rtq6 , tetng-q4rvf8 , tetng-q4rwa0 , tetng-q4rx90 , tetng-q4ryv8 , tetng-q4ryz3 , tetng-q4s0h8 , tetng-q4s5x0 , tetng-q4s6r1 , tetng-q4s6t6 , tetng-q4s7e3 , tetng-q4s7x6 , tetng-q4s8t5 , tetng-q4s9w9 , tetng-q4s050 , tetng-q4s091 , tetng-q4s144 , tetng-q4s309 , tetng-q4s578 , tetng-q4sal4 , tetng-q4sbm6 , tetng-q4sbp0 , tetng-q4sbu0 , tetng-q4sd49 , tetng-q4ser6 , tetng-q4sfm7 , tetng-q4sgm5 , tetng-q4sgv2 , tetng-q4sh74 , tetng-q4shl7 , tetng-q4si60 , tetng-q4sie5 , tetng-q4sku6 , tetng-q4smu0 , tetng-q4smy3 , tetng-q4snp0 , tetng-q4snq3 , tetng-q4spa7 , tetng-q4spq0 , tetng-q4sqr3 , tetng-q4sty0 , tetng-q4suu2 , tetng-q4suz1 , tetng-q4sxh3 , tetng-q4syn6 , tetng-q4szk0 , tetng-q4szy0 , tetng-q4t3m9 , tetng-q4t4a1 , tetng-q4t6m1 , tetng-q4t7r6 , tetng-q4t173 , tetng-q4t826 , tetng-q4t920 , tetng-q4ta33 , tetng-q4tab8 , tetng-q4tb62 , tetng-q4tbe2 , tetng-h3dbw2 , tetng-h3cpc8 , tetng-h3cjy0 , tetng-h3d966 , tetng-h3d3e3 , tetng-h3d961 , tetng-h3ctg6 , tetng-h3dde8 , tetng-h3dde9 , tetng-h3det9 , tetng-h3cre8 , tetng-h3dfb4 , tetng-h3clj8