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Molecular Human Reproduction, Vol. 6, No. 4, 314-318, April 2000
© 2000 European Society of Human Reproduction and Embryology

Ovary and oogenesis

Mapping of the POF1 locus and identification of putative genes for premature ovarian failure

Rina M. Davison1,3, M. Fox2 and G.S. Conway1

1 Cobbold Laboratories, Division of Endocrinology, Department of Medicine, University College London, WC1N 8AA, and 2 Department of Biology, The Galton Laboratory, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK

Abstract

We have identified a breakpoint on the X chromosome which is associated with premature ovarian failure (POF). Using polymerase chain reaction (PCR) probes of polymorphic microsatellites and fluorescent in-situ hybridization (FISH), this breakpoint has been narrowed to a region of 300 kb spanned by two P1 artificial chromosomes (PAC). Computer exon prediction and gene homology programs revealed three genes in this area. Our results suggest that two of these genes, HS6ST and E2F, and LINE 1 elements may be involved in ovarian development. Interruption of these genes could be the cause of POF. This study demonstrates how various molecular techniques and bioinformatic searches can complement each other in order to solve a clinical problem.

E2F/HS6ST/long interspersed nuclear elements/premature ovarian failure

Notes

3 To whom correspondence should be addressed


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