FAM71D 的致畸变体会导致男性不育,并伴有无精子症。

IF 2.3 3区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY
Xiaobin Zhu, Liu Liu, Shixiong Tian, Guijun Zhao, Erlei Zhi, Qian Chen, Feng Zhang, Aijun Zhang, Shuyan Tang, Chunyu Liu
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引用次数: 0

摘要

无精子症是导致男性不育的一个重要原因。FAM71D(序列相似性家族 71,成员 D)作为一种只在睾丸中表达的新型蛋白质,已被发现与精子活力有关。然而,FAM71D 基因突变与男性不育的关系还有待研究。在这里,我们进行了全外显子组测序,并在一个近亲结婚家庭中的一名受无精子症影响的男性身上发现了 FAM71D 的一个同源错义突变 c.440G > A (p. Arg147Gln)。FAM71D 变异在人类群体基因组数据库中极为罕见,多种生物信息学工具预测该变异为有害变异。精液分析表明,FAM71D 基因缺陷男子的精子活力下降,精子细胞出现明显的形态异常。免疫荧光测定显示,已确定的 FAM71D 突变对精子结构相关蛋白的组装有重要影响。此外,对患有 FAM71D 变异的不育男性进行的卵胞浆内单精子注射(ICSI)治疗取得了令人满意的结果。总之,我们的研究发现,FAM71D 是导致男性不育伴精子活力低下的一个新的致病基因,建议对其进行卵胞浆内单精子显微注射(ICSI)治疗,以获得良好的预后。所有这些发现将为受精索静脉曲张影响者的遗传咨询和辅助生殖治疗提供有效指导。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Deleterious variant in FAM71D cause male infertility with asthenoteratospermia.

Deleterious variant in FAM71D cause male infertility with asthenoteratospermia.

Asthenoteratospermia is a significant cause of male infertility. FAM71D (Family with sequence similarity 71, member D), as a novel protein exclusively expressed in the testis, has been found to be associated with sperm motility. However, the association of FAM71D mutation with male infertility has yet to be examined. Here, we conducted whole-exome sequencing and identified a homozygous missense mutation c.440G > A (p. Arg147Gln) of FAM71D in an asthenoteratospermia-affected man from a consanguineous family. The FAM71D variant is extremely rare in human population genome databases and predicted to be deleterious by multiple bioinformatics tools. Semen analysis indicated decreased sperm motility and obvious morphological abnormalities in sperm cells from the FAM71D-deficient man. Immunofluorescence assays revealed that the identified FAM71D mutation had an important influence on the assembly of sperm structure-related proteins. Furthermore, intra-cytoplasmic sperm injection (ICSI) treatment performed on the infertile man with FAM71D variant achieved a satisfactory outcome. Overall, our study identified FAM71D as a novel causative gene for male infertility with asthenoteratospermia, for which ICSI treatment may be suggested to acquire good prognosis. All these findings will provide effective guidance for genetic counselling and assisted reproduction treatments of asthenoteratospermia-affected subjects.

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来源期刊
Molecular Genetics and Genomics
Molecular Genetics and Genomics 生物-生化与分子生物学
CiteScore
5.10
自引率
3.20%
发文量
134
审稿时长
1 months
期刊介绍: Molecular Genetics and Genomics (MGG) publishes peer-reviewed articles covering all areas of genetics and genomics. Any approach to the study of genes and genomes is considered, be it experimental, theoretical or synthetic. MGG publishes research on all organisms that is of broad interest to those working in the fields of genetics, genomics, biology, medicine and biotechnology. The journal investigates a broad range of topics, including these from recent issues: mechanisms for extending longevity in a variety of organisms; screening of yeast metal homeostasis genes involved in mitochondrial functions; molecular mapping of cultivar-specific avirulence genes in the rice blast fungus and more.
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