title: X/autosomal translocations in the Xq critical region associated with premature ovarian failure fall within and outside genes.
abstract: Premature ovarian failure curtails female reproductive life and is often linked to balanced Xq/autosomal translocations in a critical region. We mapped regions around translocations at the edges of this zone (one in Xq13.3, two in Xq26) in large-insert clones and analyzed their sequence. One Xq26 region is extensively transcribed and, in agreement with a recent independent analysis, the breakpoint interrupts a gene that encodes a widely expressed peptidase. In contrast 430 kb around the second Xq26 breakpoint has no putative or detected gene content. In 260 kb around the Xq13 translocation, the breakpoint falls among a cluster of repetitive elements at least 59 kb from the only detected gene (a rarely expressed T-box family transcription factor). We discuss our results in relation to models that ascribe premature ovarian failure to interruption of ovarian genes or to a failure of interactions involving DNA of the critical region during follicle development.
authors.affiliation: Division of Bone and Mineral Disease, Washington University School of Medicine and Barnes-Jewish Hospital, St. Louis, Missouri 63110, USA.
authors.forename: S
authors.initials: S
authors.lastname: Mumm
authors.forename: L
authors.initials: L
authors.lastname: Herrera
authors.forename: P W
authors.initials: PW
authors.lastname: Waeltz
authors.forename: A
authors.initials: A
authors.lastname: Scardovi
authors.forename: R
authors.initials: R
authors.lastname: Nagaraja
authors.forename: T
authors.initials: T
authors.lastname: Esposito
authors.forename: D
authors.initials: D
authors.lastname: Schlessinger
authors.forename: M
authors.initials: M
authors.lastname: Rocchi
authors.forename: A
authors.initials: A
authors.lastname: Forabosco
mesh_terms: D019457:Chromosome Breakage / Q000235:genetics; D018244:Chromosomes, Artificial, Yeast / Q000235:genetics; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008957:Models, Genetic; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D016324:Sequence Tagged Sites; D014178:Translocation, Genetic / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*
chemical_list: D005819:Genetic Markers