| Literature DB >> 30207912 |
Ariella Weinberg-Shukron1, Mariana Rachmiel1, Paul Renbaum1, Suleyman Gulsuner1, Tom Walsh1, Orit Lobel1, Amatzia Dreifuss1, Avital Ben-Moshe1, Sharon Zeligson1, Reeval Segel1, Tikva Shore1, Rachel Kalifa1, Michal Goldberg1, Mary-Claire King1, Offer Gerlitz1, Ephrat Levy-Lahad1, David Zangen1.
Abstract
The causes of ovarian dysgenesis remain incompletely understood. Two sisters with XX ovarian dysgenesis carried compound heterozygous truncating mutations in the BRCA2 gene that led to reduced BRCA2 protein levels and an impaired response to DNA damage, which resulted in chromosomal breakage and the failure of RAD51 to be recruited to double-stranded DNA breaks. The sisters also had microcephaly, and one sister was in long-term remission from leukemia, which had been diagnosed when she was 5 years old. Drosophila mutants that were null for an orthologue of BRCA2 were sterile, and gonadal dysgenesis was present in both sexes. These results revealed a new role for BRCA2 and highlight the importance to ovarian development of genes that are critical for recombination during meiosis. (Funded by the Israel Science Foundation and others.).Entities:
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Year: 2018 PMID： 30207912 PMCID： PMC6230262 DOI： 10.1056/NEJMoa1800024
Source DB: PubMed Journal: N Engl J Med ISSN： 0028-4793 Impact factor: 91.245