【作者】 张鑫；

【导师】 雷初朝；

【作者基本信息】 西北农林科技大学 ， 动物遗传育种与繁殖， 2016， 硕士

【摘要】 目前,牛Y染色体转录组学分析表明至少有6种编码蛋白的多拷贝基因位于Y染色体雄性特异区(MSY)。牛MSY基因的拷贝数变异与雄性繁殖力和精子发生机制相关。由于目前没有水牛全基因组序列,国内外仅研究了水牛Y染色体上TSPY基因的拷贝数变异。关于Y染色体多拷贝基因拷贝数变异研究,主要集中在人类、牛及小鼠的TSPY、HSFY及PRAMEY等基因,没有关于水牛6个Y染色体基因HSFY、ZNF280BY、SRY、DBY、UTY和OFD1Y拷贝数变异的报道。因此,本研究使用实时定量PCR(q PCR)方法,检测3个Y染色体基因SRY、HSFY和ZNF280BY在16个中国沼泽型水牛品种、外国沼泽型水牛(越南水牛和老挝水牛)及江河型水牛(摩拉水牛和尼里拉菲水牛)共计302头公水牛中的拷贝数变异,以及3个Y染色体基因DBY、UTY和OFD1Y在6个水牛品种105头公水牛中的拷贝数变异,获得如下创新性结果:1.首次揭示水牛6个Y染色体基因(HSFY、ZNF280BY、SRY、DBY、UTY和OFD1Y基因)的拷贝数变异,发现HSFY,ZNF280BY和DBY基因的拷贝数中值数(变化范围)分别为48(20-145),257(73-974)和2(1-4);SRY和OFD1Y基因的拷贝数中值数(变化范围)为1(1-4),在越南水牛中拷贝数表现出差异;UTY基因拷贝数为1。2.揭示HSFY和ZNF280BY基因在18个水牛品种中为多拷贝基因,且拷贝数在不同个体和品种中有很大差异;DBY基因在6个水牛品种中为低拷贝基因;SRY、OFD1Y和UTY基因在中国水牛品种中为单拷贝基因。3.发现HSFY、ZNF280BY、SRY、DBY、UTY和OFD1Y基因的拷贝数变异在沼泽型水牛和江河型水牛中没有显著差异。更多还原

【Abstract】 Recent transcriptomic analysis of the bovine Y chromosome revealed that at least six multi-copy protein coding gene families were located on the male-specific region of Y chromosome(MSY). Copy number variations(CNVs) of several MSY genes are closely related to male reproduction and spermatogenesis in cattle. However, the CNVs of MSY genes in water buffalo are unknown. Just the CNV of TSPY gene on water buffalo has been reported. The CNVs of TSPY、HSFY and PRAMEY were abundantly analyzed on human,cattle and mice. However, little is knew about CNVs of HSFY、ZNF280BY、SRY、DBY、UTY and OFD1 Y genes on water buffalo. Therefore, we aimed to investigate the CNVs of three genes(SRY, HSFY, and ZNF280BY) of 302 buffaloes from 19 breeds and other three genes(DBY, UTY and OFD1Y) of 105 buffaloes from six breeds of distributed in China, Vietnam and Laos using quantitative real-time PCR(qPCR). The main results are as follows:1. We firstly demonstrate that these six Y-link genes(HSFY、ZNF280BY、SRY、DBY、UTY and OFD1Y) expand differently on Y chromosome. The median copy number(MCN) of HSFY,ZNF280 BY and DBY genes were 48(ranging from 20 to 145), 257(ranging from 73 to 974),and 2(ranging from 1 to 4), respectively. The MCN of SRY and OFD1 Y were 1(ranging from1 to 4) which had CNVs in Vietnamese buffaloes. UTY gene shows one copy.2. This study indicates that HSFY and ZNF280 BY are multi-copy genes on the buffalo MSY.DBY, SRY, and OFD1 Y were low-copy number genes, while UTY was a single copy Y-linked gene on buffalo MSY.3. The MCN estimation between river buffalo and swamp buffalo showed no significant difference; the CNVs of HSFY, ZNF280 BY, SRY, DBY, UTY and OFD1 Y gene were not able to distinguish the Swamp buffalo from River buffalo. However, the MCNs estimation of HSFY and ZNF280 BY genes showed that there were differences between foreign buffalo(Vietnam and Laos) and Chinese buffalo.更多还原