Article

Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility

2024-01-09

Abstract excerpt

<title>Abstract</title> Piwi-interacting RNAs (piRNAs) are crucial for transposon silencing, germ cell maturation, and fertility in male mice. Here, we report on the genetic landscape of piRNA dysfunction in humans and present 39 infertile men carrying biallelic variants in 14 different piRNA pathway genes, including <italic>PIWIL1</italic>, <italic>GTSF1</italic>, <italic>GPAT2, MAEL, TDRD1</italic>, and <ita...

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Literature Corpus work: 3ed8fb73-c454-51a7-99d4-a280ac3805b6
DOI: 10.21203/rs.3.rs-3710476/v1

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