Copy number variation of functional RBMY1 is associated with sperm motility: an azoospermia factor-linked candidate for asthenozoospermia

Human Reproduction
Yuanlong YanYuan Yang

Abstract

What is the influence of copy number variation (CNV) in functional RNA binding motif protein Y-linked family 1 (RBMY1) on spermatogenic phenotypes? The RBMY1 functional copy dosage is positively correlated with sperm motility, and dosage insufficiency is an independent risk factor for asthenozoospermia. RBMY1, a multi-copy gene expressed exclusively in the adult testis, is one of the most important candidates for male infertility in the azoospermia factor (AZF) region of the Y-chromosome. RBMY1 encodes an RNA-binding protein that serves as a pre-mRNA splicing regulator during spermatogenesis, and male mice deficient in Rbmy are sterile. A total of 3127 adult males were recruited from 2009 to 2016; of this group, the dosage of RBMY1 functional copy were investigated in 486 fertile males. In the remaining 2641 males with known spermatogenesis status, 1070 Y-chromosome haplogroup (Y-hg) O3* or O3e carriers without chromosomal aberration or known AZF structure mutations responsible for spermatogenic impairment, including 506 men with normozoospermia and 564 men with oligozoospermia or/and asthenozoospermia, were screened, and the RBMY1 functional copy dosage and copy conversion were determined to explore their associations with spe...Continue Reading

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Citations

Feb 20, 2018·Reproductive Biology and Endocrinology : RB&E·Stacy Colaco, Deepak Modi
Jun 20, 2019·Journal of Assisted Reproduction and Genetics·Stacy Colaco, Deepak Modi
Sep 26, 2019·Frontiers in Genetics·Kerry AndersonAmy Jayne McKnight
Nov 21, 2020·Best Practice & Research. Clinical Endocrinology & Metabolism·Nahid PunjaniPeter N Schlegel
Mar 25, 2021·The Journal of Heredity·Thea F RogersAlison E Wright

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