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|Title:||Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation|
Van Esch, H.
|Citation:||American Journal of Human Genetics, 2005; 76(2):227-236|
|Publisher:||Univ Chicago Press|
|Lars Riff Jensen, Marion Amende, Ulf Gurok, Bettina Moser, Verena Gimmel, Andreas Tzschach, Andreas R. Janecke, Gholamali Tariverdian, Jamel Chelly, Jean-Pierre Fryns, Hilde Van Esch, Tjitske Kleefstra, Ben Hamel, Claude Moraine, Jozef Gécz, Gillian Turner, Richard Reinhardt, Vera M. Kalscheuer, Hans-Hilger Ropers and Steffen Lenzner|
|Abstract:||In families with nonsyndromic X-linked mental retardation (NS-XLMR), >30% of mutations seem to cluster on proximal Xp and in the pericentric region. In a systematic screen of brain-expressed genes from this region in 210 families with XLMR, we identified seven different mutations in JARID1C, including one frameshift mutation and two nonsense mutations that introduce premature stop codons, as well as four missense mutations that alter evolutionarily conserved amino acids. In two of these families, expression studies revealed the almost complete absence of the mutated JARID1C transcript, suggesting that the phenotype in these families results from functional loss of the JARID1C protein. JARID1C (Jumonji AT-rich interactive domain 1C), formerly known as “SMCX,” is highly similar to the Y-chromosomal gene JARID1D/SMCY, which encodes the H-Y antigen. The JARID1C protein belongs to the highly conserved ARID protein family. It contains several DNA-binding motifs that link it to transcriptional regulation and chromatin remodeling, processes that are defective in various other forms of mental retardation. Our results suggest that JARID1C mutations are a relatively common cause of XLMR and that this gene might play an important role in human brain function.|
|Keywords:||Brain; Humans; Genetic Diseases, X-Linked; Oxidoreductases, N-Demethylating; Proteins; DNA Adducts; Case-Control Studies; Chromosome Mapping; Pedigree; DNA Mutational Analysis; Gene Expression Regulation; Phenotype; Adult; Child; Child, Preschool; Male; Histone Demethylases; Intellectual Disability|
|Rights:||Copyright © 2005 The American Society of Human Genetics Published by Elsevier Inc.|
|Appears in Collections:||Paediatrics publications|
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