转录单体对大猿Y染色体上安普利康基因的多样性
Marta Tomaszkiewicz1, Kristoffer Sahlin2, Paul Medvedev3,4,5,6
1Department of Biology, The Pennsylvania State University, University Park, PA 16802, USA.
Genome biology and evolution
|November 15, 2023
概括
这项研究探讨了Y染色体安普利康基因 (YAGs) 在大猿中发生的拼接,揭示了保存的模式和特定物种的变化. 研究结果提供了对男性生育能力和不孕不育的潜在原因的见解.
科学领域:
- 基因组学就是基因组学.
- 进化生物学 进化生物学
- 生殖生物学 生殖生物学
背景情况:
- Y染色体安普利康基因 (YAGs) 对男性生育能力和精子生成至关重要.
- 以前的研究集中在YAG拷贝数和大猿的表达变化.
- 大猿物种中YAG拼接变体的多样性在很大程度上仍然未被描述.
研究的目的:
- 在六种大猿物种中解读所有九个YAG家族的拼接变体.
- 研究YAG转录序列的进化保护和特定物种的变化.
- 识别与男性不育相关的潜在基因组特征.
主要方法:
- 使用捕获探头杂交来丰富YAG转录.
- 使用长读技术进行丰富转录的测序 (太平洋生物科学).
- 对人类,黑猩猩,黑猩猩,大猩猩和两个猩猩物种的转录序列进行比较分析.
主要成果:
- 在大多数YAG家族中确定了进化保守的替代拼接模式,除了BPY2和PRY.
- 观察到BPY2转录和蛋白质来自不同基因组区域的潜在来源,与人类相比,在红猩猩中.
- 在PRY基因家族中发现了伪基因化的证据,其特点是高比例的非编码转录.
- 检测到许多特定物种的蛋白质编码转录,但在五个共享的YAG家族中没有选择的签名.
- 在YAG家族和物种中预测的共识本质上是无序的区域.
结论:
- 这项研究揭示了大猿的YAG异形景观,突出了保存和分歧的拼接模式.
- 这些发现表明BPY2进化和PRY基因伪基因化的新机制.
- 鉴定的疾病区域可能成为未来男性不孕症研究的目标.
- 这项工作为了解YAG在精子生成和跨物种不孕症中的功能提供了有价值的基因组资源.
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