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家山羊(Capra hircus)基因组的测序和全基因组光学图谱自动化构建。

Sequencing and automated whole-genome optical mapping of the genome of a domestic goat (Capra hircus).

机构信息

State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China.

出版信息

Nat Biotechnol. 2013 Feb;31(2):135-41. doi: 10.1038/nbt.2478. Epub 2012 Dec 23.

Abstract

We report the ∼2.66-Gb genome sequence of a female Yunnan black goat. The sequence was obtained by combining short-read sequencing data and optical mapping data from a high-throughput whole-genome mapping instrument. The whole-genome mapping data facilitated the assembly of super-scaffolds >5× longer by the N50 metric than scaffolds augmented by fosmid end sequencing (scaffold N50 = 3.06 Mb, super-scaffold N50 = 16.3 Mb). Super-scaffolds are anchored on chromosomes based on conserved synteny with cattle, and the assembly is well supported by two radiation hybrid maps of chromosome 1. We annotate 22,175 protein-coding genes, most of which were recovered in the RNA-seq data of ten tissues. Comparative transcriptomic analysis of the primary and secondary follicles of a cashmere goat reveal 51 genes that are differentially expressed between the two types of hair follicles. This study, whose results will facilitate goat genomics, shows that whole-genome mapping technology can be used for the de novo assembly of large genomes.

摘要

我们报告了一只雌性云南黑山羊的约 2.66-Gb 基因组序列。该序列是通过将高通量全基因组图谱仪的短读测序数据和光学图谱数据相结合获得的。全基因组图谱数据有助于组装超级支架,其 N50 比通过fosmid 末端测序(支架 N50 = 3.06 Mb,超级支架 N50 = 16.3 Mb)增加的支架长 5 倍以上。超级支架基于与牛的保守共线性被锚定在染色体上,并且该组装得到了两个 1 号染色体辐射杂交图谱的很好支持。我们注释了 22175 个编码蛋白的基因,其中大多数在十种组织的 RNA-seq 数据中得到了恢复。对一只绒山羊的初级和次级毛囊的比较转录组分析显示,两种毛囊之间有 51 个基因表达存在差异。这项研究的结果将促进山羊基因组学的发展,表明全基因组图谱技术可用于大型基因组的从头组装。

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