Please use this identifier to cite or link to this item:
Scopus Web of Science® Altmetric
Type: Journal article
Title: Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
Author: Jensen, L.
Amende, M.
Gurok, U.
Moser, B.
Gimmel, V.
Tzschach, A.
Janecke, A.
Tariverdian, G.
Chelly, J.
Fryns, J.
Van Esch, H.
Kleefstra, T.
Hamel, B.
Moraine, C.
Gecz, J.
Turner, G.
Reinhardt, R.
Kalscheuer, V.
Ropers, H.
Lenzer, S.
Citation: American Journal of Human Genetics, 2005; 76(2):227-236
Publisher: Univ Chicago Press
Issue Date: 2005
ISSN: 0002-9297
Statement of
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
Genetic Diseases, X-Linked
Oxidoreductases, N-Demethylating
DNA Adducts
Case-Control Studies
Chromosome Mapping
DNA Mutational Analysis
Gene Expression Regulation
Child, Preschool
Histone Demethylases
Intellectual Disability
Rights: Copyright © 2005 The American Society of Human Genetics Published by Elsevier Inc.
DOI: 10.1086/427563
Published version:
Appears in Collections:Aurora harvest 2
Paediatrics publications

Files in This Item:
There are no files associated with this item.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.