Essential Role of BRCA2 in Ovarian Development and Function.

[title]

Essential Role of BRCA2 in Ovarian Development and Function.
卵巣の発育及びその機能におけるBRCA2の本質的役割

[author]

Weinberg-Shukron A, et al. N Engl J Med. 2018.

[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.).

[URL]

https://www.ncbi.nlm.nih.gov/m/pubmed/30207912/?i=3&from=nejm%20AND%20hasabstract

[Memo]

■知らない

ovarian 卵巣の

dysgenesis （性腺の）発育不全

compound 混ぜ合わせる

heterozygous ヘテロ接合

truncating 切り縮める、の現在分詞

breakage 破損

microcephaly 小頭症

remission 軽減、緩和

orthologue 相同分子種（共通の祖先を持つ遺伝子）

sterile 不妊の

meiosis 減数分裂

■使いたい

remain incompletely understood

Two sisters with XX ovarian dysgenesis carried

X lead to reduced A protein levels

~, which had been diagnosed when she was 5 years old

These results revealed a new role for X