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Physiol. Genomics 5: 75-80, 2001;
1094-8341/01 $5.00
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Received 22 November 2000; accepted in final form 24 January 2001.
Physiological Genomics 5:75-80 (2001)
1094-8341/01 $5.00 © 2001 American Physiological Society

A quantitative trait locus influencing estrogen levels maps to a region homologous to human chromosome 20

LISA J. MARTIN1, JOHN BLANGERO1, JEFFREY ROGERS1, MICHAEL C. MAHANEY1, JAMES E. HIXSON1, K. DEE CAREY2, PHILLIP A. MORIN3 and ANTHONY G. COMUZZIE1

1 Departments of Genetics
2 Physiology and Medicine, Southwest Foundation for Biomedical Research San Antonio, Texas 78245-0549
3 Axys Pharmaceuticals, La Jolla, California 92037

Estrogen, a steroid hormone, regulates reproduction and has been implicated in several diseases. We performed a genome-wide scan using multipoint linkage analysis implemented in a general pedigree-based variance component approach to identify genes with measurable effects on variation in estrogen levels in baboons. A microsatellite polymorphism, D20S171, located on human chromosome 20q13.11, showed strong evidence of linkage with a LOD score of 3.06 (P = 0.00009). This region contains several potential candidate genes including melanocortin 3 receptor (MC3R), cytochrome P-450 subfamily XXIV (CYP24), and breast carcinoma amplified sequence (BCAS1). This is the first evidence of a quantitative trait locus with a significant effect on estrogen.

variance component linkage analysis; reproductive hormones; baboons




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[Abstract] [Full Text] [PDF]


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