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Loss of function of FIGNL1, a DNA damage response gene, causes human ovarian dysgenesis

Eur J Endocrinol. 2023-09; 
Natan Florsheim, Larisa Naugolni, Fouad Zahdeh, Orit Lobel, Batel Terespolsky, Rachel Michaelson-Cohen, Merav Y Gold, Michal Goldberg, Paul Renbaum, Ephrat Levy-Lahad, David Zangen
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Proteins, Expression, Isolation and Analysis … DNA was extracted from peripheral blood using FlexiGene DNA blood extraction kit (Qiagen, GmbH… Western blot analysis was performed using mouse monoclonal anti-DYK (GenScript, … Get A Quote

摘要

Ovarian dysgenesis (OD), an XX disorder of sex development, presents with primary amenorrhea, hypergonadotrophic hypogonadism, and infertility. In an Ashkenazi Jewish patient with OD, whole exome sequencing identified compound heterozygous frameshifts in FIGNL1, a DNA damage response (DDR) gene: c.189del and c.1519_1523del. Chromosomal breakage was significantly increased in patient cells, both spontaneously, and following mitomycin C exposure. Transfection of DYK-tagged FIGNL1 constructs in HEK293 cells showed no detectable protein in FIGNL1c.189del and truncation with reduced expression in FIGNL1c.1519_1523del (64% of wild-type [WT], P = .003). FIGNL1 forms nuclear foci increased by phleomycin treatment (20.6... More

关键词

DNA damage response, FIGNL1, disorders of sex development, ovarian dysgenesis