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马基因组竞赛:从图谱到全基因组序列的赛跑

The horse genome derby: racing from map to whole genome sequence.

作者信息

Chowdhary Bhanu P, Raudsepp Terje

机构信息

Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX, 77843-4458, USA.

出版信息

Chromosome Res. 2008;16(1):109-27. doi: 10.1007/s10577-008-1204-z.

Abstract

The map of the horse genome has undergone unprecedented expansion during the past six years. Beginning from a modest collection of approximately 300 mapped markers scattered on the 31 pairs of autosomes and the X chromosome in 2001, today the horse genome is among the best-mapped in domestic animals. Presently, high-resolution linearly ordered gene maps are available for all autosomes as well as the X and the Y chromosome. The approximately 4350 mapped markers distributed over the approximately 2.68 Gbp long equine genome provide on average 1 marker every 620 kb. Among the most remarkable developments in equine genome analysis is the availability of the assembled sequence (EquCab2) of the female horse genome and the generation approximately 1.5 million single nucleotide polymorphisms (SNPs) from diverse breeds. This has triggered the creation of new tools and resources like the 60K SNP-chip and whole genome expression microarrays that hold promise to study the equine genome and transcriptome in ways not previously envisaged. As a result of these developments it is anticipated that, during coming years, the genetics underlying important monogenic traits will be analyzed with improved accuracy and speed. Of larger interest will be the prospects of dissecting the genetic component of various complex/multigenic traits that are of vital significance for equine health and welfare. The number of investigations recently initiated to study a multitude of such traits hold promise for improved diagnostics, prevention and therapeutic approaches for horses.

摘要

在过去六年中,马基因组图谱经历了前所未有的扩展。2001年时,仅有大约300个定位标记零散分布在31对常染色体和X染色体上,数量有限。而如今,马基因组已成为家畜中图谱绘制最为完善的之一。目前,所有常染色体以及X和Y染色体都有了高分辨率的线性排序基因图谱。分布在约26.8亿碱基对长的马基因组上的约4350个定位标记,平均每620千碱基就有1个标记。马基因组分析中最显著的进展之一是获得了母马基因组的组装序列(EquCab2),并从不同品种中产生了约150万个单核苷酸多态性(SNP)。这催生了诸如60K SNP芯片和全基因组表达微阵列等新工具和资源,有望以前所未有的方式研究马的基因组和转录组。由于这些进展,预计在未来几年,重要单基因性状的遗传基础将以更高的准确性和速度进行分析。更令人感兴趣的是剖析各种复杂/多基因性状的遗传成分的前景,这些性状对马的健康和福利至关重要。最近启动的众多此类性状研究有望改善马的诊断、预防和治疗方法。

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