The pig X and Y chromosomes: structure, sequence and evolution
The pig X and Y chromosomes: structure, sequence and evolution
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猪的 X 和 Y 染色体：结构、序列和进化
DOI：
10.1101/012914
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发表时间：
2014
期刊：
影响因子：
--
通讯作者：
Skinner B
中科院分区：
文献类型：
--
作者：
Skinner B
通过对杜洛克动物的BAC和fosmid克隆进行测序，并结合光学定位和纤维- fish的信息，我们已经生成了猪X染色体的改进组装和基因注释，以及猪Y染色体的初稿组装。X染色体携带1033个带注释的基因，其中690个是蛋白质编码基因。基因顺序与灵长类动物（包括人类）和食肉动物（包括猫和狗）的基因顺序非常接近，这被推断为祖先。然而，存在于人类X染色体上的几个蛋白质编码基因在猪中缺失，并且注释了38个猪特异性X染色体基因，其中22个是嗅觉受体。这里生成的猪y特异性染色体序列包含30兆碱基（Mb）。该序列的一个15 mb的子集被组装起来，揭示了两个男性特异性低拷贝数基因簇，由包括hsfygene家族在内的扩增区分开，它们共同构成了短臂的大部分。这两个集群都包含具有高序列同一性的回文，可能是由基因转换维持的。许多先前在至少一条哺乳动物Y染色体上报道的祖先x相关基因要么是活性基因，要么是部分序列。这个测序项目使我们能够识别猪Y染色体上的基因（包括单拷贝和扩增），比较猪X和Y染色体的同源序列，从而揭示猪X和Y染色体进化的机制。
We have generated an improved assembly and gene annotation of the pig X Chromosome, and a first draft assembly of the pig Y Chromosome, by sequencing BAC and fosmid clones from Duroc animals and incorporating information from optical mapping and fiber-FISH. The X Chromosome carries 1033 annotated genes, 690 of which are protein coding. Gene order closely matches that found in primates (including humans) and carnivores (including cats and dogs), which is inferred to be ancestral. Nevertheless, several protein-coding genes present on the human X Chromosome were absent from the pig, and 38 pig-specific X-chromosomal genes were annotated, 22 of which were olfactory receptors. The pig Y-specific Chromosome sequence generated here comprises 30 megabases (Mb). A 15-Mb subset of this sequence was assembled, revealing two clusters of male-specific low copy number genes, separated by an ampliconic region including theHSFYgene family, which together make up most of the short arm. Both clusters contain palindromes with high sequence identity, presumably maintained by gene conversion. Many of the ancestral X-related genes previously reported in at least one mammalian Y Chromosome are represented either as active genes or partial sequences. This sequencing project has allowed us to identify genes—both single copy and amplified—on the pig Y Chromosome, to compare the pig X and Y Chromosomes for homologous sequences, and thereby to reveal mechanisms underlying pig X and Y Chromosome evolution.