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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents

ID: 271219.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
: 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; Gimme, Verena; Tzschach, Andreas; Janecke, Andreas R.; Tariverdian, Gholamali; Chelly, Jamel; Fryns, Jean-Pierre; Van Esch, Hilde; Kleefstra, Tjitske; Hame, Ben; Moraine, Claude; Gécz, Jozef; Turner, Gillian; Reinhardt, Richard; Kalscheuer, Vera M.; Ropers, Hans-Hilger; Lenzner, Steffen
Date of Publication (YYYY-MM-DD):2005-01-01
Title of Journal:American Journal of Human Genetics
Journal Abbrev.:Am. J. Hum. Genet.
Issue / Number:2
Start Page:227
End Page:236
Copyright:© 2004 by The American Society of Human Genetics. All rights reserved.
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:Department of Medical Biology and Human Genetics, Innsbruck, Austria,
Medical University, Innsbruck,Austria,
Institute for Human Genetics, University Heidelberg, Germany,
Institut Cochin de Génétique Moleculaire, CNRS/INSERM, CHU Cochin, Paris, France,
Center for Human Genetics, Clinical Genetics Unit, Leuven, Belgium,
Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands,
Services de Génétique-INSERM U316, CHU Bretonneau, Tours, France,
Women's and Children's Hospital and the University of Adelaide, Adelaide, Australia,
Genetics of Learning Disability (GOLD) Service, Hunter Genetics, University of Newcastle, New South Wales, Australia.
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