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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism
Endocrine Research, Volume 31, No. 4, Year 2005
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Description
We report a novel mutant of the luteinizing hormone receptor (LHR) in a case of familial Leydig cell hypoplasia and pseudohermaphrotidism. The proband was homozygous for two missense mutations, T1121C and C1175T, causing substitutions I374T and T392I. The molecular effects of the mutations were investigated by heterologous expression of the WT LHR, the double mutant LHR, or receptors with either the I374T or the T392I mutation, and measuring hormone binding and cAMP signaling. All mutant LHRs exhibited severe defects, including loss of ligand binding and cAMP production. Immunoblots showed little difference in protein levels between the WT and mutant receptors. Copyright © 2005 Taylor & Francis, LLC.
Authors & Co-Authors
Pals-Rylaarsdam, Robin
United States, Chicago
Northwestern University Feinberg School of Medicine
United States, Palos Heights
Trinity Christian College
Liu, Guoquan
United States, Chicago
Northwestern University Feinberg School of Medicine
United States, Chicago
University of Illinois at Chicago
Brickman, Wendy J.
United States, Chicago
Northwestern University Feinberg School of Medicine
Duranteau, Lise
United States, Chicago
Northwestern University Feinberg School of Medicine
France, Chatillon
Hra Pharma
Monroe, Jason
United States, Chicago
Northwestern University Feinberg School of Medicine
El Awady, Mostafa K.
Egypt, Giza
National Research Centre
Gad, Yehia Z.
Egypt, Giza
National Research Centre
Shenker, Andrew
United States, Chicago
Northwestern University Feinberg School of Medicine
United States, New York
Bristol-myers Squibb
Statistics
Citations: 19
Authors: 8
Affiliations: 6
Identifiers
Doi:
10.1080/07435800500430890
e-ISSN:
15324206
Research Areas
Cancer
Participants Gender
Male