Title: Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
Authors: Jensen, Lars Riff ×
Amende, Marion
Gurok, Ulf
Moser, Bettina
Gimmel, Verena
Tzschach, Andreas
Janecke, Andreas R
Tariverdian, Gholamali
Chelly, Jamel
Fryns, Jean-Pierre
Van Esch, Hilde
Kleefstra, Tjitske
Hamel, Ben
Moraine, Claude
Gecz, Jozef
Turner, Gillian
Reinhardt, Richard
Kalscheuer, Vera M
Ropers, Hans-Hilger
Lenzner, Steffen #
Issue Date: Feb-2005
Series Title: American Journal of Human Genetics vol:76 issue:2 pages:227-236
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.
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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