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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1
-/-
mice
American Journal of Human Genetics, Volume 91, No. 1, Year 2012
Notification
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Description
Members of the highly conserved homeobox (HOX) gene family encode transcription factors that confer cellular and tissue identities along the antero-posterior axis of mice and humans. We have identified a founder homozygous missense mutation in HOXB1 in two families from a conservative German American population. The resulting phenotype includes bilateral facial palsy, hearing loss, and strabismus and correlates extensively with the previously reported Hoxb1-/- mouse phenotype. The missense variant is predicted to result in the substitution of a cysteine for an arginine at amino acid residue 207 (Arg207Cys), which corresponds to the highly conserved Arg5 of the homeodomain. Arg5 interacts with thymine in the minor groove of DNA through hydrogen bonding and electrostatic attraction. Molecular modeling and an in vitro DNA-protein binding assay predict that the mutation would disrupt these interactions, destabilize the HOXB1:PBX1:DNA complex, and alter HOXB1 transcriptional activity. © 2012 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3397264/bin/mmc1.pdf
Authors & Co-Authors
Webb, Bryn D.
United States, New York
Icahn School of Medicine at Mount Sinai
Shaaban, Sherin
United States, Boston
Boston Children's Hospital
United States, Boston
Harvard Medical School
Egypt, Mansoura
Faculty of Medicine
United States, Boston
Dubai Harvard Foundation for Medical Research
Gaspar, Harald
United States, New York
Icahn School of Medicine at Mount Sinai
Germany, Heidelberg
Universitätsklinikum Heidelberg
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Cunha, Luis F.
United States, New York
Icahn School of Medicine at Mount Sinai
United States, New York
Memorial Sloan-kettering Cancer Center
Schubert, Christian R.
United States, Boston
Boston Children's Hospital
United States, Boston
Harvard Medical School
United States, Cambridge
Massachusetts Institute of Technology
Hao, Ke
United States, New York
Icahn School of Medicine at Mount Sinai
Robson, Caroline D.
United States, Boston
Boston Children's Hospital
Chan, Waiman
United States, Boston
Boston Children's Hospital
United States, Chevy Chase
Howard Hughes Medical Institute
Andrews, Caroline V.
United States, Boston
Boston Children's Hospital
United States, Boston
Harvard Medical School
United States, Chevy Chase
Howard Hughes Medical Institute
MacKinnon, Sarah E.
United States, Boston
Boston Children's Hospital
Oystreck, Darren T.
Saudi Arabia, Riyadh
College of Medicine
South Africa, Cape Town
Stellenbosch University, Faculty of Medicine and Health Sciences
Hunter, David G.
United States, Boston
Boston Children's Hospital
United States, Boston
Harvard Medical School
Iacovelli, Anthony J.
United States, New York
Icahn School of Medicine at Mount Sinai
Ye, Xiaoqian
United States, New York
Icahn School of Medicine at Mount Sinai
Camminady, Anne
Germany, Heidelberg
Universitätsklinikum Heidelberg
Engle, Elizabeth C.
United States, Boston
Boston Children's Hospital
United States, Boston
Harvard Medical School
United States, Chevy Chase
Howard Hughes Medical Institute
United States, Cambridge
Massachusetts Institute of Technology
Jabs, Ethylin Wang
United States, New York
Icahn School of Medicine at Mount Sinai
United States, Baltimore
Johns Hopkins University
Statistics
Citations: 72
Authors: 17
Affiliations: 13
Identifiers
Doi:
10.1016/j.ajhg.2012.05.018
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Cancer
Disability
Genetics And Genomics
Study Design
Cross Sectional Study