Tracey A

References (10)

Title : The genomic basis of parasitism in the Strongyloides clade of nematodes - Hunt_2016_Nat.Genet_48_299
Author(s) : Hunt VL , Tsai IJ , Coghlan A , Reid AJ , Holroyd N , Foth BJ , Tracey A , Cotton JA , Stanley EJ , Beasley H , Bennett HM , Brooks K , Harsha B , Kajitani R , Kulkarni A , Harbecke D , Nagayasu E , Nichol S , Ogura Y , Quail MA , Randle N , Xia D , Brattig NW , Soblik H , Ribeiro DM , Sanchez-Flores A , Hayashi T , Itoh T , Denver DR , Grant W , Stoltzfus JD , Lok JB , Murayama H , Wastling J , Streit A , Kikuchi T , Viney M , Berriman M
Ref : Nat Genet , 48 :299 , 2016
Abstract : Soil-transmitted nematodes, including the Strongyloides genus, cause one of the most prevalent neglected tropical diseases. Here we compare the genomes of four Strongyloides species, including the human pathogen Strongyloides stercoralis, and their close relatives that are facultatively parasitic (Parastrongyloides trichosuri) and free-living (Rhabditophanes sp. KR3021). A significant paralogous expansion of key gene families-families encoding astacin-like and SCP/TAPS proteins-is associated with the evolution of parasitism in this clade. Exploiting the unique Strongyloides life cycle, we compare the transcriptomes of the parasitic and free-living stages and find that these same gene families are upregulated in the parasitic stages, underscoring their role in nematode parasitism.
ESTHER : Hunt_2016_Nat.Genet_48_299
PubMedSearch : Hunt_2016_Nat.Genet_48_299
PubMedID: 26829753
Gene_locus related to this paper: 9bila-a0a1i8c9u2 , 9bila-a0a1i8cf76 , 9bila-a0a1i8d2w3 , 9bila-a0a1i8ce18 , 9bila-a0a1i8cmc7

Title : The genomes of four tapeworm species reveal adaptations to parasitism - Tsai_2013_Nature_496_57
Author(s) : Tsai IJ , Zarowiecki M , Holroyd N , Garciarrubio A , Sanchez-Flores A , Brooks KL , Tracey A , Bobes RJ , Fragoso G , Sciutto E , Aslett M , Beasley H , Bennett HM , Cai J , Camicia F , Clark R , Cucher M , De Silva N , Day TA , Deplazes P , Estrada K , Fernandez C , Holland PW , Hou J , Hu S , Huckvale T , Hung SS , Kamenetzky L , Keane JA , Kiss F , Koziol U , Lambert O , Liu K , Luo X , Luo Y , Macchiaroli N , Nichol S , Paps J , Parkinson J , Pouchkina-Stantcheva N , Riddiford N , Rosenzvit M , Salinas G , Wasmuth JD , Zamanian M , Zheng Y , Cai X , Soberon X , Olson PD , Laclette JP , Brehm K , Berriman M
Ref : Nature , 496 :57 , 2013
Abstract : Tapeworms (Cestoda) cause neglected diseases that can be fatal and are difficult to treat, owing to inefficient drugs. Here we present an analysis of tapeworm genome sequences using the human-infective species Echinococcus multilocularis, E. granulosus, Taenia solium and the laboratory model Hymenolepis microstoma as examples. The 115- to 141-megabase genomes offer insights into the evolution of parasitism. Synteny is maintained with distantly related blood flukes but we find extreme losses of genes and pathways that are ubiquitous in other animals, including 34 homeobox families and several determinants of stem cell fate. Tapeworms have specialized detoxification pathways, metabolism that is finely tuned to rely on nutrients scavenged from their hosts, and species-specific expansions of non-canonical heat shock proteins and families of known antigens. We identify new potential drug targets, including some on which existing pharmaceuticals may act. The genomes provide a rich resource to underpin the development of urgently needed treatments and control.
ESTHER : Tsai_2013_Nature_496_57
PubMedSearch : Tsai_2013_Nature_496_57
PubMedID: 23485966
Gene_locus related to this paper: echgr-k4epc5 , hymmi-a0a068x9f5 , echmu-u6hbw4 , echgr-w6ugl0 , echmu-u6hr32 , echmu-a0a068y5f4 , hymmi-a0a068xag4 , hymmi-a0a068x810 , hymmi-a0a068xcc1 , echmu-a0a068yf54 , echgr-a0a068wxj3 , echgr-a0a068wgw1 , hymmi-a0a068xge7 , hymmi-a0a068x8h9 , echmu-a0a068y747 , hymmi-a0a068xgj7 , echgr-a0a068wl60

Title : The zebrafish reference genome sequence and its relationship to the human genome - Howe_2013_Nature_496_498
Author(s) : Howe K , Clark MD , Torroja CF , Torrance J , Berthelot C , Muffato M , Collins JE , Humphray S , McLaren K , Matthews L , Mclaren S , Sealy I , Caccamo M , Churcher C , Scott C , Barrett JC , Koch R , Rauch GJ , White S , Chow W , Kilian B , Quintais LT , Guerra-Assuncao JA , Zhou Y , Gu Y , Yen J , Vogel JH , Eyre T , Redmond S , Banerjee R , Chi J , Fu B , Langley E , Maguire SF , Laird GK , Lloyd D , Kenyon E , Donaldson S , Sehra H , Almeida-King J , Loveland J , Trevanion S , Jones M , Quail M , Willey D , Hunt A , Burton J , Sims S , McLay K , Plumb B , Davis J , Clee C , Oliver K , Clark R , Riddle C , Elliot D , Threadgold G , Harden G , Ware D , Begum S , Mortimore B , Kerry G , Heath P , Phillimore B , Tracey A , Corby N , Dunn M , Johnson C , Wood J , Clark S , Pelan S , Griffiths G , Smith M , Glithero R , Howden P , Barker N , Lloyd C , Stevens C , Harley J , Holt K , Panagiotidis G , Lovell J , Beasley H , Henderson C , Gordon D , Auger K , Wright D , Collins J , Raisen C , Dyer L , Leung K , Robertson L , Ambridge K , Leongamornlert D , McGuire S , Gilderthorp R , Griffiths C , Manthravadi D , Nichol S , Barker G , Whitehead S , Kay M , Brown J , Murnane C , Gray E , Humphries M , Sycamore N , Barker D , Saunders D , Wallis J , Babbage A , Hammond S , Mashreghi-Mohammadi M , Barr L , Martin S , Wray P , Ellington A , Matthews N , Ellwood M , Woodmansey R , Clark G , Cooper J , Tromans A , Grafham D , Skuce C , Pandian R , Andrews R , Harrison E , Kimberley A , Garnett J , Fosker N , Hall R , Garner P , Kelly D , Bird C , Palmer S , Gehring I , Berger A , Dooley CM , Ersan-Urun Z , Eser C , Geiger H , Geisler M , Karotki L , Kirn A , Konantz J , Konantz M , Oberlander M , Rudolph-Geiger S , Teucke M , Lanz C , Raddatz G , Osoegawa K , Zhu B , Rapp A , Widaa S , Langford C , Yang F , Schuster SC , Carter NP , Harrow J , Ning Z , Herrero J , Searle SM , Enright A , Geisler R , Plasterk RH , Lee C , Westerfield M , de Jong PJ , Zon LI , Postlethwait JH , Nusslein-Volhard C , Hubbard TJ , Roest Crollius H , Rogers J , Stemple DL
Ref : Nature , 496 :498 , 2013
Abstract : Zebrafish have become a popular organism for the study of vertebrate gene function. The virtually transparent embryos of this species, and the ability to accelerate genetic studies by gene knockdown or overexpression, have led to the widespread use of zebrafish in the detailed investigation of vertebrate gene function and increasingly, the study of human genetic disease. However, for effective modelling of human genetic disease it is important to understand the extent to which zebrafish genes and gene structures are related to orthologous human genes. To examine this, we generated a high-quality sequence assembly of the zebrafish genome, made up of an overlapping set of completely sequenced large-insert clones that were ordered and oriented using a high-resolution high-density meiotic map. Detailed automatic and manual annotation provides evidence of more than 26,000 protein-coding genes, the largest gene set of any vertebrate so far sequenced. Comparison to the human reference genome shows that approximately 70% of human genes have at least one obvious zebrafish orthologue. In addition, the high quality of this genome assembly provides a clearer understanding of key genomic features such as a unique repeat content, a scarcity of pseudogenes, an enrichment of zebrafish-specific genes on chromosome 4 and chromosomal regions that influence sex determination.
ESTHER : Howe_2013_Nature_496_498
PubMedSearch : Howe_2013_Nature_496_498
PubMedID: 23594743
Gene_locus related to this paper: danre-1neur , danre-ABHD10b , danre-a9jrf7 , danre-d2x2g3 , danre-e7ezq9 , danre-e7ff77 , danre-ndr3 , danre-nlgn4a , danre-q1mti5 , danre-q6nyz4 , danre-q6p2u2 , danre-q7t359 , danre-q08c93 , danre-A2BGU9 , danre-f1q676 , danre-e7f0z8 , danre-e7ez27 , danre-e7f2w1 , danre-f1qid7 , danre-a0a0g2kru2 , danre-f1qla7 , danre-a9jr90 , danre-e7f070 , danre-f172a , danre-e7fb35 , danre-a7mbu9 , danre-f1qtr2

Title : The DNA sequence and biological annotation of human chromosome 1 - Gregory_2006_Nature_441_315
Author(s) : Gregory SG , Barlow KF , McLay KE , Kaul R , Swarbreck D , Dunham A , Scott CE , Howe KL , Woodfine K , Spencer CC , Jones MC , Gillson C , Searle S , Zhou Y , Kokocinski F , McDonald L , Evans R , Phillips K , Atkinson A , Cooper R , Jones C , Hall RE , Andrews TD , Lloyd C , Ainscough R , Almeida JP , Ambrose KD , Anderson F , Andrew RW , Ashwell RI , Aubin K , Babbage AK , Bagguley CL , Bailey J , Beasley H , Bethel G , Bird CP , Bray-Allen S , Brown JY , Brown AJ , Buckley D , Burton J , Bye J , Carder C , Chapman JC , Clark SY , Clarke G , Clee C , Cobley V , Collier RE , Corby N , Coville GJ , Davies J , Deadman R , Dunn M , Earthrowl M , Ellington AG , Errington H , Frankish A , Frankland J , French L , Garner P , Garnett J , Gay L , Ghori MR , Gibson R , Gilby LM , Gillett W , Glithero RJ , Grafham DV , Griffiths C , Griffiths-Jones S , Grocock R , Hammond S , Harrison ES , Hart E , Haugen E , Heath PD , Holmes S , Holt K , Howden PJ , Hunt AR , Hunt SE , Hunter G , Isherwood J , James R , Johnson C , Johnson D , Joy A , Kay M , Kershaw JK , Kibukawa M , Kimberley AM , King A , Knights AJ , Lad H , Laird G , Lawlor S , Leongamornlert DA , Lloyd DM , Loveland J , Lovell J , Lush MJ , Lyne R , Martin S , Mashreghi-Mohammadi M , Matthews L , Matthews NS , Mclaren S , Milne S , Mistry S , Moore MJ , Nickerson T , O'Dell CN , Oliver K , Palmeiri A , Palmer SA , Parker A , Patel D , Pearce AV , Peck AI , Pelan S , Phelps K , Phillimore BJ , Plumb R , Rajan J , Raymond C , Rouse G , Saenphimmachak C , Sehra HK , Sheridan E , Shownkeen R , Sims S , Skuce CD , Smith M , Steward C , Subramanian S , Sycamore N , Tracey A , Tromans A , Van Helmond Z , Wall M , Wallis JM , White S , Whitehead SL , Wilkinson JE , Willey DL , Williams H , Wilming L , Wray PW , Wu Z , Coulson A , Vaudin M , Sulston JE , Durbin R , Hubbard T , Wooster R , Dunham I , Carter NP , McVean G , Ross MT , Harrow J , Olson MV , Beck S , Rogers J , Bentley DR , Banerjee R , Bryant SP , Burford DC , Burrill WD , Clegg SM , Dhami P , Dovey O , Faulkner LM , Gribble SM , Langford CF , Pandian RD , Porter KM , Prigmore E
Ref : Nature , 441 :315 , 2006
Abstract : The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Fine-scale recombination occurs in hotspots of varying intensity along the sequence, and is enriched near genes. These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome.
ESTHER : Gregory_2006_Nature_441_315
PubMedSearch : Gregory_2006_Nature_441_315
PubMedID: 16710414
Gene_locus related to this paper: human-LYPLAL1 , human-PPT1 , human-TMCO4 , human-TMEM53

Title : The DNA sequence of the human X chromosome - Ross_2005_Nature_434_325
Author(s) : Ross MT , Grafham DV , Coffey AJ , Scherer S , McLay K , Muzny D , Platzer M , Howell GR , Burrows C , Bird CP , Frankish A , Lovell FL , Howe KL , Ashurst JL , Fulton RS , Sudbrak R , Wen G , Jones MC , Hurles ME , Andrews TD , Scott CE , Searle S , Ramser J , Whittaker A , Deadman R , Carter NP , Hunt SE , Chen R , Cree A , Gunaratne P , Havlak P , Hodgson A , Metzker ML , Richards S , Scott G , Steffen D , Sodergren E , Wheeler DA , Worley KC , Ainscough R , Ambrose KD , Ansari-Lari MA , Aradhya S , Ashwell RI , Babbage AK , Bagguley CL , Ballabio A , Banerjee R , Barker GE , Barlow KF , Barrett IP , Bates KN , Beare DM , Beasley H , Beasley O , Beck A , Bethel G , Blechschmidt K , Brady N , Bray-Allen S , Bridgeman AM , Brown AJ , Brown MJ , Bonnin D , Bruford EA , Buhay C , Burch P , Burford D , Burgess J , Burrill W , Burton J , Bye JM , Carder C , Carrel L , Chako J , Chapman JC , Chavez D , Chen E , Chen G , Chen Y , Chen Z , Chinault C , Ciccodicola A , Clark SY , Clarke G , Clee CM , Clegg S , Clerc-Blankenburg K , Clifford K , Cobley V , Cole CG , Conquer JS , Corby N , Connor RE , David R , Davies J , Davis C , Davis J , Delgado O , Deshazo D , Dhami P , Ding Y , Dinh H , Dodsworth S , Draper H , Dugan-Rocha S , Dunham A , Dunn M , Durbin KJ , Dutta I , Eades T , Ellwood M , Emery-Cohen A , Errington H , Evans KL , Faulkner L , Francis F , Frankland J , Fraser AE , Galgoczy P , Gilbert J , Gill R , Glockner G , Gregory SG , Gribble S , Griffiths C , Grocock R , Gu Y , Gwilliam R , Hamilton C , Hart EA , Hawes A , Heath PD , Heitmann K , Hennig S , Hernandez J , Hinzmann B , Ho S , Hoffs M , Howden PJ , Huckle EJ , Hume J , Hunt PJ , Hunt AR , Isherwood J , Jacob L , Johnson D , Jones S , de Jong PJ , Joseph SS , Keenan S , Kelly S , Kershaw JK , Khan Z , Kioschis P , Klages S , Knights AJ , Kosiura A , Kovar-Smith C , Laird GK , Langford C , Lawlor S , Leversha M , Lewis L , Liu W , Lloyd C , Lloyd DM , Loulseged H , Loveland JE , Lovell JD , Lozado R , Lu J , Lyne R , Ma J , Maheshwari M , Matthews LH , McDowall J , Mclaren S , McMurray A , Meidl P , Meitinger T , Milne S , Miner G , Mistry SL , Morgan M , Morris S , Muller I , Mullikin JC , Nguyen N , Nordsiek G , Nyakatura G , O'Dell CN , Okwuonu G , Palmer S , Pandian R , Parker D , Parrish J , Pasternak S , Patel D , Pearce AV , Pearson DM , Pelan SE , Perez L , Porter KM , Ramsey Y , Reichwald K , Rhodes S , Ridler KA , Schlessinger D , Schueler MG , Sehra HK , Shaw-Smith C , Shen H , Sheridan EM , Shownkeen R , Skuce CD , Smith ML , Sotheran EC , Steingruber HE , Steward CA , Storey R , Swann RM , Swarbreck D , Tabor PE , Taudien S , Taylor T , Teague B , Thomas K , Thorpe A , Timms K , Tracey A , Trevanion S , Tromans AC , d'Urso M , Verduzco D , Villasana D , Waldron L , Wall M , Wang Q , Warren J , Warry GL , Wei X , West A , Whitehead SL , Whiteley MN , Wilkinson JE , Willey DL , Williams G , Williams L , Williamson A , Williamson H , Wilming L , Woodmansey RL , Wray PW , Yen J , Zhang J , Zhou J , Zoghbi H , Zorilla S , Buck D , Reinhardt R , Poustka A , Rosenthal A , Lehrach H , Meindl A , Minx PJ , Hillier LW , Willard HF , Wilson RK , Waterston RH , Rice CM , Vaudin M , Coulson A , Nelson DL , Weinstock G , Sulston JE , Durbin R , Hubbard T , Gibbs RA , Beck S , Rogers J , Bentley DR
Ref : Nature , 434 :325 , 2005
Abstract : The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. We have determined 99.3% of the euchromatic sequence of the X chromosome. Our analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome. LINE1 repeat elements cover one-third of the X chromosome, with a distribution that is consistent with their proposed role as way stations in the process of X-chromosome inactivation. We found 1,098 genes in the sequence, of which 99 encode proteins expressed in testis and in various tumour types. A disproportionately high number of mendelian diseases are documented for the X chromosome. Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence.
ESTHER : Ross_2005_Nature_434_325
PubMedSearch : Ross_2005_Nature_434_325
PubMedID: 15772651
Gene_locus related to this paper: human-NLGN3 , human-NLGN4X

Title : DNA sequence and analysis of human chromosome 9 - Humphray_2004_Nature_429_369
Author(s) : Humphray SJ , Oliver K , Hunt AR , Plumb RW , Loveland JE , Howe KL , Andrews TD , Searle S , Hunt SE , Scott CE , Jones MC , Ainscough R , Almeida JP , Ambrose KD , Ashwell RI , Babbage AK , Babbage S , Bagguley CL , Bailey J , Banerjee R , Barker DJ , Barlow KF , Bates K , Beasley H , Beasley O , Bird CP , Bray-Allen S , Brown AJ , Brown JY , Burford D , Burrill W , Burton J , Carder C , Carter NP , Chapman JC , Chen Y , Clarke G , Clark SY , Clee CM , Clegg S , Collier RE , Corby N , Crosier M , Cummings AT , Davies J , Dhami P , Dunn M , Dutta I , Dyer LW , Earthrowl ME , Faulkner L , Fleming CJ , Frankish A , Frankland JA , French L , Fricker DG , Garner P , Garnett J , Ghori J , Gilbert JG , Glison C , Grafham DV , Gribble S , Griffiths C , Griffiths-Jones S , Grocock R , Guy J , Hall RE , Hammond S , Harley JL , Harrison ES , Hart EA , Heath PD , Henderson CD , Hopkins BL , Howard PJ , Howden PJ , Huckle E , Johnson C , Johnson D , Joy AA , Kay M , Keenan S , Kershaw JK , Kimberley AM , King A , Knights A , Laird GK , Langford C , Lawlor S , Leongamornlert DA , Leversha M , Lloyd C , Lloyd DM , Lovell J , Martin S , Mashreghi-Mohammadi M , Matthews L , Mclaren S , McLay KE , McMurray A , Milne S , Nickerson T , Nisbett J , Nordsiek G , Pearce AV , Peck AI , Porter KM , Pandian R , Pelan S , Phillimore B , Povey S , Ramsey Y , Rand V , Scharfe M , Sehra HK , Shownkeen R , Sims SK , Skuce CD , Smith M , Steward CA , Swarbreck D , Sycamore N , Tester J , Thorpe A , Tracey A , Tromans A , Thomas DW , Wall M , Wallis JM , West AP , Whitehead SL , Willey DL , Williams SA , Wilming L , Wray PW , Young L , Ashurst JL , Coulson A , Blocker H , Durbin R , Sulston JE , Hubbard T , Jackson MJ , Bentley DR , Beck S , Rogers J , Dunham I
Ref : Nature , 429 :369 , 2004
Abstract : Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric inversions occur in more than 1% of the population. The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs and represents >99.6% of the region. Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block. We have annotated 1,149 genes, including genes implicated in male-to-female sex reversal, cancer and neurodegenerative disease, and 426 pseudogenes. The chromosome contains the largest interferon gene cluster in the human genome. There is also a region of exceptionally high gene and G + C content including genes paralogous to those in the major histocompatibility complex. We have also detected recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection.
ESTHER : Humphray_2004_Nature_429_369
PubMedSearch : Humphray_2004_Nature_429_369
PubMedID: 15164053
Gene_locus related to this paper: human-CEL

Title : The DNA sequence and analysis of human chromosome 13 - Dunham_2004_Nature_428_522
Author(s) : Dunham A , Matthews LH , Burton J , Ashurst JL , Howe KL , Ashcroft KJ , Beare DM , Burford DC , Hunt SE , Griffiths-Jones S , Jones MC , Keenan SJ , Oliver K , Scott CE , Ainscough R , Almeida JP , Ambrose KD , Andrews DT , Ashwell RI , Babbage AK , Bagguley CL , Bailey J , Bannerjee R , Barlow KF , Bates K , Beasley H , Bird CP , Bray-Allen S , Brown AJ , Brown JY , Burrill W , Carder C , Carter NP , Chapman JC , Clamp ME , Clark SY , Clarke G , Clee CM , Clegg SC , Cobley V , Collins JE , Corby N , Coville GJ , Deloukas P , Dhami P , Dunham I , Dunn M , Earthrowl ME , Ellington AG , Faulkner L , Frankish AG , Frankland J , French L , Garner P , Garnett J , Gilbert JG , Gilson CJ , Ghori J , Grafham DV , Gribble SM , Griffiths C , Hall RE , Hammond S , Harley JL , Hart EA , Heath PD , Howden PJ , Huckle EJ , Hunt PJ , Hunt AR , Johnson C , Johnson D , Kay M , Kimberley AM , King A , Laird GK , Langford CJ , Lawlor S , Leongamornlert DA , Lloyd DM , Lloyd C , Loveland JE , Lovell J , Martin S , Mashreghi-Mohammadi M , McLaren SJ , McMurray A , Milne S , Moore MJ , Nickerson T , Palmer SA , Pearce AV , Peck AI , Pelan S , Phillimore B , Porter KM , Rice CM , Searle S , Sehra HK , Shownkeen R , Skuce CD , Smith M , Steward CA , Sycamore N , Tester J , Thomas DW , Tracey A , Tromans A , Tubby B , Wall M , Wallis JM , West AP , Whitehead SL , Willey DL , Wilming L , Wray PW , Wright MW , Young L , Coulson A , Durbin R , Hubbard T , Sulston JE , Beck S , Bentley DR , Rogers J , Ross MT
Ref : Nature , 428 :522 , 2004
Abstract : Chromosome 13 is the largest acrocentric human chromosome. It carries genes involved in cancer including the breast cancer type 2 (BRCA2) and retinoblastoma (RB1) genes, is frequently rearranged in B-cell chronic lymphocytic leukaemia, and contains the DAOA locus associated with bipolar disorder and schizophrenia. We describe completion and analysis of 95.5 megabases (Mb) of sequence from chromosome 13, which contains 633 genes and 296 pseudogenes. We estimate that more than 95.4% of the protein-coding genes of this chromosome have been identified, on the basis of comparison with other vertebrate genome sequences. Additionally, 105 putative non-coding RNA genes were found. Chromosome 13 has one of the lowest gene densities (6.5 genes per Mb) among human chromosomes, and contains a central region of 38 Mb where the gene density drops to only 3.1 genes per Mb.
ESTHER : Dunham_2004_Nature_428_522
PubMedSearch : Dunham_2004_Nature_428_522
PubMedID: 15057823
Gene_locus related to this paper: human-ESD , human-TEX30

Title : The DNA sequence and comparative analysis of human chromosome 10 - Deloukas_2004_Nature_429_375
Author(s) : Deloukas P , Earthrowl ME , Grafham DV , Rubenfield M , French L , Steward CA , Sims SK , Jones MC , Searle S , Scott C , Howe K , Hunt SE , Andrews TD , Gilbert JG , Swarbreck D , Ashurst JL , Taylor A , Battles J , Bird CP , Ainscough R , Almeida JP , Ashwell RI , Ambrose KD , Babbage AK , Bagguley CL , Bailey J , Banerjee R , Bates K , Beasley H , Bray-Allen S , Brown AJ , Brown JY , Burford DC , Burrill W , Burton J , Cahill P , Camire D , Carter NP , Chapman JC , Clark SY , Clarke G , Clee CM , Clegg S , Corby N , Coulson A , Dhami P , Dutta I , Dunn M , Faulkner L , Frankish A , Frankland JA , Garner P , Garnett J , Gribble S , Griffiths C , Grocock R , Gustafson E , Hammond S , Harley JL , Hart E , Heath PD , Ho TP , Hopkins B , Horne J , Howden PJ , Huckle E , Hynds C , Johnson C , Johnson D , Kana A , Kay M , Kimberley AM , Kershaw JK , Kokkinaki M , Laird GK , Lawlor S , Lee HM , Leongamornlert DA , Laird G , Lloyd C , Lloyd DM , Loveland J , Lovell J , Mclaren S , McLay KE , McMurray A , Mashreghi-Mohammadi M , Matthews L , Milne S , Nickerson T , Nguyen M , Overton-Larty E , Palmer SA , Pearce AV , Peck AI , Pelan S , Phillimore B , Porter K , Rice CM , Rogosin A , Ross MT , Sarafidou T , Sehra HK , Shownkeen R , Skuce CD , Smith M , Standring L , Sycamore N , Tester J , Thorpe A , Torcasso W , Tracey A , Tromans A , Tsolas J , Wall M , Walsh J , Wang H , Weinstock K , West AP , Willey DL , Whitehead SL , Wilming L , Wray PW , Young L , Chen Y , Lovering RC , Moschonas NK , Siebert R , Fechtel K , Bentley D , Durbin R , Hubbard T , Doucette-Stamm L , Beck S , Smith DR , Rogers J
Ref : Nature , 429 :375 , 2004
Abstract : The finished sequence of human chromosome 10 comprises a total of 131,666,441 base pairs. It represents 99.4% of the euchromatic DNA and includes one megabase of heterochromatic sequence within the pericentromeric region of the short and long arm of the chromosome. Sequence annotation revealed 1,357 genes, of which 816 are protein coding, and 430 are pseudogenes. We observed widespread occurrence of overlapping coding genes (either strand) and identified 67 antisense transcripts. Our analysis suggests that both inter- and intrachromosomal segmental duplications have impacted on the gene count on chromosome 10. Multispecies comparative analysis indicated that we can readily annotate the protein-coding genes with current resources. We estimate that over 95% of all coding exons were identified in this study. Assessment of single base changes between the human chromosome 10 and chimpanzee sequence revealed nonsense mutations in only 21 coding genes with respect to the human sequence.
ESTHER : Deloukas_2004_Nature_429_375
PubMedSearch : Deloukas_2004_Nature_429_375
PubMedID: 15164054
Gene_locus related to this paper: human-LIPA , human-LIPK , human-PNLIPRP1 , human-PNLIPRP2 , human-PNLIPRP3

Title : The DNA sequence and analysis of human chromosome 6 - Mungall_2003_Nature_425_805
Author(s) : Mungall AJ , Palmer SA , Sims SK , Edwards CA , Ashurst JL , Wilming L , Jones MC , Horton R , Hunt SE , Scott CE , Gilbert JG , Clamp ME , Bethel G , Milne S , Ainscough R , Almeida JP , Ambrose KD , Andrews TD , Ashwell RI , Babbage AK , Bagguley CL , Bailey J , Banerjee R , Barker DJ , Barlow KF , Bates K , Beare DM , Beasley H , Beasley O , Bird CP , Blakey S , Bray-Allen S , Brook J , Brown AJ , Brown JY , Burford DC , Burrill W , Burton J , Carder C , Carter NP , Chapman JC , Clark SY , Clark G , Clee CM , Clegg S , Cobley V , Collier RE , Collins JE , Colman LK , Corby NR , Coville GJ , Culley KM , Dhami P , Davies J , Dunn M , Earthrowl ME , Ellington AE , Evans KA , Faulkner L , Francis MD , Frankish A , Frankland J , French L , Garner P , Garnett J , Ghori MJ , Gilby LM , Gillson CJ , Glithero RJ , Grafham DV , Grant M , Gribble S , Griffiths C , Griffiths M , Hall R , Halls KS , Hammond S , Harley JL , Hart EA , Heath PD , Heathcott R , Holmes SJ , Howden PJ , Howe KL , Howell GR , Huckle E , Humphray SJ , Humphries MD , Hunt AR , Johnson CM , Joy AA , Kay M , Keenan SJ , Kimberley AM , King A , Laird GK , Langford C , Lawlor S , Leongamornlert DA , Leversha M , Lloyd CR , Lloyd DM , Loveland JE , Lovell J , Martin S , Mashreghi-Mohammadi M , Maslen GL , Matthews L , Mccann OT , McLaren SJ , McLay K , McMurray A , Moore MJ , Mullikin JC , Niblett D , Nickerson T , Novik KL , Oliver K , Overton-Larty EK , Parker A , Patel R , Pearce AV , Peck AI , Phillimore B , Phillips S , Plumb RW , Porter KM , Ramsey Y , Ranby SA , Rice CM , Ross MT , Searle SM , Sehra HK , Sheridan E , Skuce CD , Smith S , Smith M , Spraggon L , Squares SL , Steward CA , Sycamore N , Tamlyn-Hall G , Tester J , Theaker AJ , Thomas DW , Thorpe A , Tracey A , Tromans A , Tubby B , Wall M , Wallis JM , West AP , White SS , Whitehead SL , Whittaker H , Wild A , Willey DJ , Wilmer TE , Wood JM , Wray PW , Wyatt JC , Young L , Younger RM , Bentley DR , Coulson A , Durbin R , Hubbard T , Sulston JE , Dunham I , Rogers J , Beck S
Ref : Nature , 425 :805 , 2003
Abstract : Chromosome 6 is a metacentric chromosome that constitutes about 6% of the human genome. The finished sequence comprises 166,880,988 base pairs, representing the largest chromosome sequenced so far. The entire sequence has been subjected to high-quality manual annotation, resulting in the evidence-supported identification of 1,557 genes and 633 pseudogenes. Here we report that at least 96% of the protein-coding genes have been identified, as assessed by multi-species comparative sequence analysis, and provide evidence for the presence of further, otherwise unsupported exons/genes. Among these are genes directly implicated in cancer, schizophrenia, autoimmunity and many other diseases. Chromosome 6 harbours the largest transfer RNA gene cluster in the genome; we show that this cluster co-localizes with a region of high transcriptional activity. Within the essential immune loci of the major histocompatibility complex, we find HLA-B to be the most polymorphic gene on chromosome 6 and in the human genome.
ESTHER : Mungall_2003_Nature_425_805
PubMedSearch : Mungall_2003_Nature_425_805
PubMedID: 14574404
Gene_locus related to this paper: human-ABHD16A , human-BPHL , human-FAM135A , human-PRSS16 , human-SERAC1

Title : The DNA sequence and comparative analysis of human chromosome 20 - Deloukas_2001_Nature_414_865
Author(s) : Deloukas P , Matthews LH , Ashurst J , Burton J , Gilbert JG , Jones M , Stavrides G , Almeida JP , Babbage AK , Bagguley CL , Bailey J , Barlow KF , Bates KN , Beard LM , Beare DM , Beasley OP , Bird CP , Blakey SE , Bridgeman AM , Brown AJ , Buck D , Burrill W , Butler AP , Carder C , Carter NP , Chapman JC , Clamp M , Clark G , Clark LN , Clark SY , Clee CM , Clegg S , Cobley VE , Collier RE , Connor R , Corby NR , Coulson A , Coville GJ , Deadman R , Dhami P , Dunn M , Ellington AG , Frankland JA , Fraser A , French L , Garner P , Grafham DV , Griffiths C , Griffiths MN , Gwilliam R , Hall RE , Hammond S , Harley JL , Heath PD , Ho S , Holden JL , Howden PJ , Huckle E , Hunt AR , Hunt SE , Jekosch K , Johnson CM , Johnson D , Kay MP , Kimberley AM , King A , Knights A , Laird GK , Lawlor S , Lehvaslaiho MH , Leversha M , Lloyd C , Lloyd DM , Lovell JD , Marsh VL , Martin SL , McConnachie LJ , McLay K , McMurray AA , Milne S , Mistry D , Moore MJ , Mullikin JC , Nickerson T , Oliver K , Parker A , Patel R , Pearce TA , Peck AI , Phillimore BJ , Prathalingam SR , Plumb RW , Ramsay H , Rice CM , Ross MT , Scott CE , Sehra HK , Shownkeen R , Sims S , Skuce CD , Smith ML , Soderlund C , Steward CA , Sulston JE , Swann M , Sycamore N , Taylor R , Tee L , Thomas DW , Thorpe A , Tracey A , Tromans AC , Vaudin M , Wall M , Wallis JM , Whitehead SL , Whittaker P , Willey DL , Williams L , Williams SA , Wilming L , Wray PW , Hubbard T , Durbin RM , Bentley DR , Beck S , Rogers J
Ref : Nature , 414 :865 , 2001
Abstract : The finished sequence of human chromosome 20 comprises 59,187,298 base pairs (bp) and represents 99.4% of the euchromatic DNA. A single contig of 26 megabases (Mb) spans the entire short arm, and five contigs separated by gaps totalling 320 kb span the long arm of this metacentric chromosome. An additional 234,339 bp of sequence has been determined within the pericentromeric region of the long arm. We annotated 727 genes and 168 pseudogenes in the sequence. About 64% of these genes have a 5' and a 3' untranslated region and a complete open reading frame. Comparative analysis of the sequence of chromosome 20 to whole-genome shotgun-sequence data of two other vertebrates, the mouse Mus musculus and the puffer fish Tetraodon nigroviridis, provides an independent measure of the efficiency of gene annotation, and indicates that this analysis may account for more than 95% of all coding exons and almost all genes.
ESTHER : Deloukas_2001_Nature_414_865
PubMedSearch : Deloukas_2001_Nature_414_865
PubMedID: 11780052
Gene_locus related to this paper: human-ABHD12 , human-ABHD16B , human-CTSA , human-NDRG3 , human-RBBP9