排序方式: 共有5条查询结果,搜索用时 125 毫秒
1
1.
A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse 总被引:1,自引:0,他引:1
Rosengren Pielberg G Golovko A Sundström E Curik I Lennartsson J Seltenhammer MH Druml T Binns M Fitzsimmons C Lindgren G Sandberg K Baumung R Vetterlein M Strömberg S Grabherr M Wade C Lindblad-Toh K Pontén F Heldin CH Sölkner J Andersson L 《Nature genetics》2008,40(8):1004-1009
In horses, graying with age is an autosomal dominant trait associated with a high incidence of melanoma and vitiligo-like depigmentation. Here we show that the Gray phenotype is caused by a 4.6-kb duplication in intron 6 of STX17 (syntaxin-17) that constitutes a cis-acting regulatory mutation. Both STX17 and the neighboring NR4A3 gene are overexpressed in melanomas from Gray horses. Gray horses carrying a loss-of-function mutation in ASIP (agouti signaling protein) had a higher incidence of melanoma, implying that increased melanocortin-1 receptor signaling promotes melanoma development in Gray horses. The Gray horse provides a notable example of how humans have cherry-picked mutations with favorable phenotypic effects in domestic animals. 相似文献
2.
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 《Nature》2007,447(7141):167-177
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. 相似文献
3.
Jones FC Grabherr MG Chan YF Russell P Mauceli E Johnson J Swofford R Pirun M Zody MC White S Birney E Searle S Schmutz J Grimwood J Dickson MC Myers RM Miller CT Summers BR Knecht AK Brady SD Zhang H Pollen AA Howes T Amemiya C;Broad Institute Genome Sequencing Platform & Whole Genome Assembly Team Baldwin J Bloom T Jaffe DB Nicol R Wilkinson J Lander ES Di Palma F Lindblad-Toh K Kingsley DM 《Nature》2012,484(7392):55-61
Marine stickleback fish have colonized and adapted to thousands of streams and lakes formed since the last ice age, providing an exceptional opportunity to characterize genomic mechanisms underlying repeated ecological adaptation in nature. Here we develop a high-quality reference genome assembly for threespine sticklebacks. By sequencing the genomes of twenty additional individuals from a global set of marine and freshwater populations, we identify a genome-wide set of loci that are consistently associated with marine-freshwater divergence. Our results indicate that reuse of globally shared standing genetic variation, including chromosomal inversions, has an important role in repeated evolution of distinct marine and freshwater sticklebacks, and in the maintenance of divergent ecotypes during early stages of reproductive isolation. Both coding and regulatory changes occur in the set of loci underlying marine-freshwater evolution, but regulatory changes appear to predominate in this well known example of repeated adaptive evolution in nature. 相似文献
4.
Alföldi J Di Palma F Grabherr M Williams C Kong L Mauceli E Russell P Lowe CB Glor RE Jaffe JD Ray DA Boissinot S Shedlock AM Botka C Castoe TA Colbourne JK Fujita MK Moreno RG ten Hallers BF Haussler D Heger A Heiman D Janes DE Johnson J de Jong PJ Koriabine MY Lara M Novick PA Organ CL Peach SE Poe S Pollock DD de Queiroz K Sanger T Searle S Smith JD Smith Z Swofford R Turner-Maier J Wade J Young S Zadissa A Edwards SV Glenn TC Schneider CJ Losos JB Lander ES Breen M Ponting CP Lindblad-Toh K 《Nature》2011,477(7366):587-591
The evolution of the amniotic egg was one of the great evolutionary innovations in the history of life, freeing vertebrates from an obligatory connection to water and thus permitting the conquest of terrestrial environments. Among amniotes, genome sequences are available for mammals and birds, but not for non-avian reptiles. Here we report the genome sequence of the North American green anole lizard, Anolis carolinensis. We find that A. carolinensis microchromosomes are highly syntenic with chicken microchromosomes, yet do not exhibit the high GC and low repeat content that are characteristic of avian microchromosomes. Also, A. carolinensis mobile elements are very young and diverse-more so than in any other sequenced amniote genome. The GC content of this lizard genome is also unusual in its homogeneity, unlike the regionally variable GC content found in mammals and birds. We describe and assign sequence to the previously unknown A. carolinensis X chromosome. Comparative gene analysis shows that amniote egg proteins have evolved significantly more rapidly than other proteins. An anole phylogeny resolves basal branches to illuminate the history of their repeated adaptive radiations. 相似文献
5.
Lindblad-Toh K Wade CM Mikkelsen TS Karlsson EK Jaffe DB Kamal M Clamp M Chang JL Kulbokas EJ 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 《Nature》2005,438(7069):803-819
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. 相似文献
1