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Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility

ABSTRACT: Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility

PROVIDER: PRJNA563627 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR10059806.fastq.gz	Fastqsanger.gz
	SRR10059806_1.fastq.gz	Fastqsanger.gz
	SRR10059806_2.fastq.gz	Fastqsanger.gz
	SRR10059807.fastq.gz	Fastqsanger.gz
	SRR10059807_1.fastq.gz	Fastqsanger.gz

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Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility

Project description:Infertility in men and women is a common and complex genetic trait with shared biological bases between the sexes. We performed a series of rare variant analyses across 73,185 women and men to identify genes that contribute to primary gonadal dysfunction and identified CSMD1 as a strong candidate in both sexes. CSMD1 is a complement regulatory protein on chromosome 8p23. In order to interpret and support our genetic findings, we performed detailed transcriptomic and protein-based experiments which found CSMD1 enriched at the germ-cell/somatic-cell interface in both male and female gonads. We then performed a battery of tests on Csmd1 knockout mice. Knockout males show increased rates of infertility, and present testes with severe histological degeneration and significantly increased deposition of complement C3 protein. Knockout females show significant reduction in ovarian quality and breeding success, as well as impaired branching of the mammary glands. Furthermore, double knockout of Csmd1 and C3 leads to an unexpected and non-additive reduction in breeding success, suggesting that CSMD1 and the complement pathway play an important role in the normal postnatal development of the gonads in both sexes.

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Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility.

Project description:Infertility in men and women is a complex genetic trait with shared biological bases between the sexes. Here, we perform a series of rare variant analyses across 73,185 women and men to identify genes that contribute to primary gonadal dysfunction. We report CSMD1, a complement regulatory protein on chromosome 8p23, as a strong candidate locus in both sexes. We show that CSMD1 is enriched at the germ-cell/somatic-cell interface in both male and female gonads. Csmd1-knockout males show increased rates of infertility with significantly increased complement C3 protein deposition in the testes, accompanied by severe histological degeneration. Knockout females show significant reduction in ovarian quality and breeding success, as well as mammary branching impairment. Double knockout of Csmd1 and C3 causes non-additive reduction in breeding success, suggesting that CSMD1 and the complement pathway play an important role in the normal postnatal development of the gonads in both sexes.

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