title: Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.
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.
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Nishimura-Tadaki
authors.forename: Takahito
authors.initials: T
authors.lastname: Wada
authors.forename: Gul
authors.initials: G
authors.lastname: Bano
authors.forename: Karen
authors.initials: K
authors.lastname: Gough
authors.forename: Janet
authors.initials: J
authors.lastname: Warner
authors.forename: Tomoki
authors.initials: T
authors.lastname: Kosho
authors.forename: Noriko
authors.initials: N
authors.lastname: Ando
authors.forename: Haruka
authors.initials: H
authors.lastname: Hamanoue
authors.forename: Hideya
authors.initials: H
authors.lastname: Sakakibara
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Tsurusaki
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Doi
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Keiko
authors.initials: K
authors.lastname: Wakui
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Fumiki
authors.initials: F
authors.lastname: Hirahara
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D001483:Base Sequence; D056905:Chromosome Breakpoints; D041321:Chromosomes, Human, X; D005260:Female; D050172:Genes, X-Linked; D006801:Humans; D016254:Mutagenesis, Insertional; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid; D014178:Translocation, Genetic