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- Title
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.
- Authors
Nishimura-Tadaki, Akira; Wada, Takahito; Bano, Gul; Gough, Karen; Warner, Janet; Kosho, Tomoki; Ando, Noriko; Hamanoue, Haruka; Sakakibara, Hideya; Nishimura, Gen; Tsurusaki, Yoshinori; Doi, Hiroshi; Miyake, Noriko; Wakui, Keiko; Saitsu, Hirotomo; Fukushima, Yoshimitsu; Hirahara, Fumiki; Matsumoto, Naomichi
- Abstract
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.
- Subjects
X chromosome; PREMATURE ovarian failure; HUMAN genetics; AMENORRHEA; GONADOTROPIN; NUCLEOTIDES; COLLAGEN; PATIENTS
- Publication
Journal of Human Genetics, 2011, Vol 56, Issue 2, p156
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1038/jhg.2010.155