Journal Article

Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure

Hirahara, Fumiki, Sakakibara, Hideya, Bano, Gul, Miyake, Noriko, Wada, Takahito, Saitsu, Hirotomo, Ando, Noriko, Matsumoto, Naomichi, Kosho, Tomoki, Doi, Hiroshi, Fukushima, Yoshimitsu, Warner, Janet, Wakui, Keiko, Hamanoue, Haruka, Nishimura-Tadaki, Akira, Nishimura, Gen, Tsurusaki, Yoshinori, Gough, Karen

2011

Overview

Premature ovarian failure (POF) is a disorder characterized by amenorrhea and elevated serum gonadotropins before 40 years of age. As X chromosomal abnormalities are often recognized in POF patients, defects of X-linked gene may contribute to POF. Four cases of POF with t(X;autosome) were genetically analyzed. All the translocation breakpoints were determined at the nucleotide level. Interestingly, COL4A6 at Xq22.3 encoding collagen type IV alpha 6 was disrupted by the translocation in one case, but in the remaining three cases, breakpoints did not involve any X-linked genes. According to the breakpoint sequences, two translocations had microhomology of a few nucleotides and the other two showed insertion of 3–8 nucleotides with unknown origin, suggesting that non-homologous end-joining is related to the formation of all the translocations.

• Publisher: Nature Publishing Group UK,Nature Publishing Group
• Subject: 631/208/2489/1381/1853 / 692/699/2743/1526 / Amenorrhea / Base Sequence / Biomedical and Life Sciences / Biomedicine / Breakpoints / Chromosome Breakpoints / Chromosome translocations / Chromosomes, Human, X / Collagen (type IV) / Female / Gene Expression / Gene Function / Gene Therapy / Genes, X-Linked / Gonadotropins / Human Genetics / Humans / Insertion / Molecular Medicine / Mutagenesis, Insertional / Non-homologous end joining / original-article / Ovaries / Pituitary (anterior) / Primary Ovarian Insufficiency - genetics / Reproductive status / Sequence Homology, Nucleic Acid / Translocation, Genetic