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山羊基因组拷贝数变异的初步比较图谱。

An initial comparative map of copy number variations in the goat (Capra hircus) genome.

机构信息

DIPROVAL, Sezione di Allevamenti Zootecnici, University of Bologna, Via F.lli Rosselli 107, 42123 Reggio Emilia, Italy.

出版信息

BMC Genomics. 2010 Nov 17;11:639. doi: 10.1186/1471-2164-11-639.

Abstract

BACKGROUND

The goat (Capra hircus) represents one of the most important farm animal species. It is reared in all continents with an estimated world population of about 800 million of animals. Despite its importance, studies on the goat genome are still in their infancy compared to those in other farm animal species. Comparative mapping between cattle and goat showed only a few rearrangements in agreement with the similarity of chromosome banding. We carried out a cross species cattle-goat array comparative genome hybridization (aCGH) experiment in order to identify copy number variations (CNVs) in the goat genome analysing animals of different breeds (Saanen, Camosciata delle Alpi, Girgentana, and Murciano-Granadina) using a tiling oligonucleotide array with ~385,000 probes designed on the bovine genome.

RESULTS

We identified a total of 161 CNVs (an average of 17.9 CNVs per goat), with the largest number in the Saanen breed and the lowest in the Camosciata delle Alpi goat. By aggregating overlapping CNVs identified in different animals we determined CNV regions (CNVRs): on the whole, we identified 127 CNVRs covering about 11.47 Mb of the virtual goat genome referred to the bovine genome (0.435% of the latter genome). These 127 CNVRs included 86 loss and 41 gain and ranged from about 24 kb to about 1.07 Mb with a mean and median equal to 90,292 bp and 49,530 bp, respectively. To evaluate whether the identified goat CNVRs overlap with those reported in the cattle genome, we compared our results with those obtained in four independent cattle experiments. Overlapping between goat and cattle CNVRs was highly significant (P < 0.0001) suggesting that several chromosome regions might contain recurrent interspecies CNVRs. Genes with environmental functions were over-represented in goat CNVRs as reported in other mammals.

CONCLUSIONS

We describe a first map of goat CNVRs. This provides information on a comparative basis with the cattle genome by identifying putative recurrent interspecies CNVs between these two ruminant species. Several goat CNVs affect genes with important biological functions. Further studies are needed to evaluate the functional relevance of these CNVs and their effects on behavior, production, and disease resistance traits in goats.

摘要

背景

山羊(Capra hircus)是最重要的农场动物物种之一。它在各大洲都有养殖,估计全球有大约 8 亿只动物。尽管它很重要,但与其他农场动物物种相比,对山羊基因组的研究仍处于起步阶段。牛和山羊之间的比较作图显示,染色体带型的相似性仅有少数重排。为了鉴定山羊基因组中的拷贝数变异(CNVs),我们进行了一项跨物种牛-山羊阵列比较基因组杂交(aCGH)实验,使用针对牛基因组设计的约 385000 个探针的平铺寡核苷酸阵列,分析来自不同品种(萨能、阿尔卑斯山山羊肉牛、Girgentana 和穆尔西亚-格拉纳迪纳)的动物。

结果

我们总共鉴定出 161 个 CNVs(每个山羊平均 17.9 个 CNVs),其中萨能品种的 CNVs 数量最多,阿尔卑斯山山羊肉牛的 CNVs 数量最少。通过聚集不同动物中鉴定出的重叠 CNVs,我们确定了 CNV 区域(CNVR):总的来说,我们鉴定出 127 个 CNVRs,覆盖了虚拟山羊基因组相对于牛基因组的约 11.47Mb(后者基因组的 0.435%)。这 127 个 CNVRs 包括 86 个缺失和 41 个增益,大小从大约 24kb 到大约 1.07Mb 不等,平均和中位数分别为 90292bp 和 49530bp。为了评估鉴定出的山羊 CNVR 是否与牛基因组中的报告重叠,我们将我们的结果与四项独立的牛实验的结果进行了比较。山羊和牛 CNVR 之间的重叠具有高度显著性(P < 0.0001),表明一些染色体区域可能包含反复出现的种间 CNVRs。与其他哺乳动物一样,具有环境功能的基因在山羊 CNVR 中过度表达。

结论

我们描述了山羊 CNVR 的第一张图谱。通过鉴定这两个反刍动物物种之间的潜在反复种间 CNVs,为比较分析提供了信息。几个山羊 CNVs 影响具有重要生物学功能的基因。需要进一步研究来评估这些 CNVs 的功能相关性及其对山羊行为、生产和疾病抗性特征的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/55b8/3011854/de1b18f3fb0b/1471-2164-11-639-1.jpg

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