PIWI-specific insertion module: a newly identified regulatory element essential for longer piRNAs loading and male fertility

Article Genetics & Heredity

Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models

Chunyu Liu et al.

Summary: Primate-specific genes (PSGs) expressed in the brain and testis are consistent with brain evolution in primates. The identification of deleterious variants of the X-linked SSX1 gene in men with asthenoteratozoospermia highlights its crucial role in spermatogenesis. Knocking down Ssx1 expression in non-human primate and tree shrew models resulted in reduced sperm motility and abnormal sperm morphology, reflecting the phenotype observed in humans. This study has important implications for genetic counseling and clinical diagnosis, and provides insights into the functions of testis-enriched PSGs in spermatogenesis.

AMERICAN JOURNAL OF HUMAN GENETICS (2023)

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Article Genetics & Heredity

Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility

Chunyu Liu et al.

Summary: The study identified variants in CFAP47 gene leading to X-linked MMAF and asthenoteratozoospermia. Experimental observations in patients and mice demonstrated that fertility could be restored through ICSI.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Article Medicine, General & Internal

Variant PNLDC1, Defective piRNA Processing, and Azoospermia

L. Nagirnaja et al.

Summary: Four men of Middle Eastern descent with nonobstructive azoospermia were found to carry mutations in the PNLDC1 gene, leading to abnormal meiosis and spermatogenesis. Testicular histologic findings showed errors in meiosis and spermatogenic arrest in these men, indicating a direct mechanistic effect of faulty piRNA processing on male infertility.

NEW ENGLAND JOURNAL OF MEDICINE (2021)

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Article Biochemistry & Molecular Biology