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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
Nature Genetics, Volume 38, No. 2, Year 2006
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Description
Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized by bilateral renal cystic dysplasia, developmental defects of the central nervous system (most commonly occipital encephalocele), hepatic ductal dysplasia and cysts and polydactyly1-3. MKS is genetically heterogeneous, with three loci mapped: MKS1, 17q21-24 (ref. 4); MKS2, 11q13 (ref. 5) and MKS3 (ref. 6). We have refined MKS3 mapping to a 12.67-Mb interval (8q21.13-q22.1) that is syntenic to the Wpk locus in rat, which is a model with polycystic kidney disease, agenesis of the corpus callosum and hydrocephalus7,8. Positional cloning of the Wpk gene suggested a MKS3 candidate gene, TMEM67, for which we identified pathogenic mutations for five MKS3-linked consanguineous families. MKS3 is a previously uncharacterized, evolutionarily conserved gene that is expressed at moderate levels in fetal brain, liver and kidney but has widespread, low levels of expression. It encodes a 995-amino acid seven-transmembrane receptor protein of unknown function that we have called meckelin. © 2006 Nature Publishing Group.
Authors & Co-Authors
Smith, Ursula M.
United Kingdom, Birmingham
Birmingham Medical School
Consugar, Mark
United States, Rochester
Mayo Medical School
Tee, Louise
United Kingdom, Birmingham
Birmingham Medical School
McKee, Brandy M.
United States, Indianapolis
Indiana University School of Medicine
Maina, Esther N.
United Kingdom, Birmingham
Birmingham Medical School
Whelan, Shelly
United States, Rochester
Mayo Medical School
Morgan, Neil V.
United Kingdom, Birmingham
Birmingham Medical School
Goranson, Erin
United States, Rochester
Mayo Medical School
Gissen, Paul
United Kingdom, Birmingham
Birmingham Medical School
United Kingdom, Birmingham
Birmingham Children's Hospital
Lilliquist, Stacie
United States, Rochester
Mayo Medical School
Aligianis, Irene A.
United Kingdom, Birmingham
Birmingham Medical School
United Kingdom, Birmingham
Birmingham Women's Hospital
Ward, Christopher J.
United States, Rochester
Mayo Medical School
Pasha, Shanaz
United Kingdom, Birmingham
Birmingham Medical School
Punyashthiti, Rachaneekorn
United States, Rochester
Mayo Medical School
Sharif, Saghira Malik
United Kingdom, Leeds
St James's University Hospital
Batman, P. A.
United Kingdom, Bradford
Bradford Royal Infirmary
Bennett, Christopher P.
United Kingdom, Leeds
St James's University Hospital
Woods, Christopher Geoffrey
United Kingdom, Cambridge
University of Cambridge
McKeown, Carole M.E.
United Kingdom, Birmingham
Birmingham Women's Hospital
Bucourt, Martine
France, Bondy
Hopital Jean-verdier
Miller, Caroline A.
United States, Indianapolis
Indiana University School of Medicine
Cox, Phillip
United Kingdom, Birmingham
Birmingham Women's Hospital
Al-Gazali, Lihadh I.
United Arab Emirates, Al Ain
United Arab Emirates University
Trembath, Richard C.
United Kingdom, Leicester
University of Leicester
Torres, Vicente E.
United States, Rochester
Mayo Medical School
Attié-Bitach, Tania
France, Paris
Hôpital Necker Enfants Malades
Kelly, Deirdre Anne K.
United Kingdom, Birmingham
Birmingham Children's Hospital
Mäher, Eamonn Richard
United Kingdom, Birmingham
Birmingham Medical School
Gattone, Vincent H.
United States, Indianapolis
Indiana University School of Medicine
Harris, Peter C.
United States, Rochester
Mayo Medical School
Johnson, Colin A.
United Kingdom, Birmingham
Birmingham Medical School
Statistics
Citations: 286
Authors: 31
Affiliations: 12
Identifiers
Doi:
10.1038/ng1713
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Genetics And Genomics
Noncommunicable Diseases