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Vol. 89, No. 1-2, 2000
Issue release date: 2000
Section title: Paper
Cytogenet Cell Genet 89:44–50 (2000)
(DOI:10.1159/000015560)

Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene

Prueitt R.L.a · Ross J.L.b · Zinn A.R.a
aEugene McDermott Center for Human Growth and Development and Department of Internal Medicine, The University of Texas Southwestern Medical School, Dallas, TX, and bDepartment of Pediatrics, Thomas Jefferson University, Philadelphia, PA (USA)

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Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 6/26/2000
Issue release date: 2000

Number of Print Pages: 7
Number of Figures: 5
Number of Tables: 2

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR

Abstract

Abstract.

Women with balanced translocations between the long arm of the X chromosome (Xq) and an autosome frequently suffer premature ovarian failure (POF). Two “critical regions” for POF which extend from Xq13→q22 and from Xq22→q26 have been identified using cytogenetics. To gain insight into the mechanism(s) responsible for ovarian failure in women with X;autosome translocations, we have molecularly characterized the translocation breakpoints of nine X chromosomes. We mapped the breakpoints using somatic cell hybrids retaining the derivative autosome and densely spaced markers from the X-chromosome physical map. One of the POF-associated breakpoints in a critical region (Xq25) mapped to a sequenced PAC clone. The translocation disrupts XPNPEP2, which encodes an Xaa-Pro aminopeptidase that hydrolyzes N-terminal Xaa-Pro bonds. XPNPEP2 mRNA was detected in fibroblasts that carry the translocation, suggesting that this gene at least partially escapes X inactivation. Although the physiologic substrates for the enzyme are not known, XPNPEP2 is a candidate gene for POF. Our breakpoint mapping data will help to identify additional candidate POF genes and to delineate the Xq POF critical region(s).   

© 2000 S. Karger AG, Basel


  

Author Contacts

Request reprints from Dr. Andrew R. Zinn, The University of Texas Southwestern Medical School, 6000 Harry Hines Boulevard, Dallas, TX 75390-8591 (USA); telephone: 214-648-1600; fax: 214-648-1666;e-mail: Andrew.Zinn@email.swmed.edu.

  

Article Information

Supported by National Institutes of Health grants NS35554 (to A.R.Z. and J.L.R.) and HG00038 (to R.P.).

Received: Received 4 January 2000;
revision accepted 2 February 2000.
Number of Print Pages : 7
Number of Figures : 5, Number of Tables : 2, Number of References : 34

  

Publication Details

Cytogenetics and Cell Genetics
Founded 1962 as Cytogenetics by H.P. Klinger

Vol. 89, No. 1-2, Year 2000 (Cover Date: 2000)

Journal Editor: H.P. Klinger, Bronx, N.Y.; M. Schmid, Würzburg
ISSN: 0301–0171 (print), 1422–9816 (Online)

For additional information: http://www.karger.com/journals/ccg


Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 6/26/2000
Issue release date: 2000

Number of Print Pages: 7
Number of Figures: 5
Number of Tables: 2

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR


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