X-linked palindromic gene families 4930567H17Rik and Mageb5 are dispensable for male mouse fertility.
X-linked palindromic gene families 4930567H17Rik and Mageb5 are dispensable for male mouse fertility.
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DOI：
10.1038/s41598-022-12433-9
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发表时间：
2022-05-20
影响因子：
4.6
通讯作者：
中科院分区：
文献类型：
--
作者：
哺乳动物性染色体富含大的、几乎相同的回文序列，这些序列包含主要在睾丸生殖细胞中表达的基因。由于破坏基因家族的所有拷贝的挑战，辨别单个回文相关基因家族是否对男性生殖至关重要是困难的。在这里，我们产生精确的，独立的，删除，以评估生殖作用的两个X-连锁回文基因家族与精子细胞占主导地位的表达，4930567 H17 Rik和Mageb 5。序列分析显示小鼠4930567 H17 Rik和Mageb 5分别是人HSFX 3和MAGEB 5的直系同源物，其中4930567 H17 Rik/HSFX 3在人和小鼠中以回文形式存在，而Mageb 5不是。另外的序列分析显示，4930567 H17 Rik和HSFX 3分别在啮齿动物和灵长类动物中迅速分化。缺乏4930567 H17 Rik或Mageb 5基因家族的小鼠在雄性生育力、生殖力、精子发生或基因调控方面没有可检测到的缺陷，但在精子头部形态上确实显示出差异，表明在精子功能中具有潜在作用。我们的结论是，虽然所有的回文相关基因的家庭是必不可少的男性生育能力，大回文影响其相关基因家族的进化。
Mammalian sex chromosomes are enriched for large, nearly-identical, palindromic sequences harboring genes expressed predominately in testicular germ cells. Discerning if individual palindrome-associated gene families are essential for male reproduction is difficult due to challenges in disrupting all copies of a gene family. Here we generate precise, independent, deletions to assess the reproductive roles of two X-linked palindromic gene families with spermatid-predominant expression, 4930567H17Rik and Mageb5. Sequence analyses reveals mouse 4930567H17Rik and Mageb5 are orthologs of human HSFX3 and MAGEB5, respectively, where 4930567H17Rik/HSFX3 is harbored in a palindrome in humans and mice, while Mageb5 is not. Additional sequence analyses show 4930567H17Rik and HSFX3 are rapidly diverging in rodents and primates, respectively. Mice lacking either 4930567H17Rik or Mageb5 gene families do not have detectable defects in male fertility, fecundity, spermatogenesis, or in gene regulation, but do show differences in sperm head morphology, suggesting a potential role in sperm function. We conclude that while all palindrome-associated gene families are not essential for male fertility, large palindromes influence the evolution of their associated gene families.
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X染色体重新激活在小鼠的新生原始生殖细胞中启动。
影响因子：
4.5
作者：
Sugimoto, Michihiko;Abe, Kuniya
通讯作者：
Abe, Kuniya
影响因子：
11.8
作者：
Green CD;Ma Q;Manske GL;Shami AN;Zheng X;Marini S;Moritz L;Sultan C;Gurczynski SJ;Moore BB;Tallquist MD;Li JZ;Hammoud SS
通讯作者：
Hammoud SS
DOI：
10.1073/pnas.0800620105
发表时间：
2008-08-12
影响因子：
11.1
作者：
Akerfelt, Malin;Henriksson, Eva;Sistonen, Lea
通讯作者：
Sistonen, Lea
影响因子：
3.6
作者：
Holcomb, Richard J.;Oura, Seiya;Garcia, Thomas X.
通讯作者：
Garcia, Thomas X.
影响因子：
9.8
作者：
Repping, S;Skaletsky, H;Rozen, S
通讯作者：
Rozen, S