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  : Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

Jensen, L. R., Amende, M., Gurok, U., Moser, B., Gimme, V., Tzschach, A., et al. (2005).: Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. American Journal of Human Genetics, 76(2), 227-236. doi:0002-9297/2005/7602-0010.

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Genre: Journal Article
Alternative Title : Am. J. Hum. Genet.

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Jensen, Lars Riff1, Author              
Amende, Marion2, Author              
Gurok, Ulf3, Author
Moser, Bettina3, Author
Gimme, Verena3, Author
Tzschach, Andreas4, Author              
Janecke, Andreas R., Author
Tariverdian, Gholamali, Author
Chelly, Jamel, Author
Fryns, Jean-Pierre, Author
Van Esch, Hilde, Author
Kleefstra, Tjitske, Author
Hame, Ben, Author
Moraine, Claude, Author
Gécz, Jozef, Author
Turner, Gillian, Author
Reinhardt, Richard5, Author              
Kalscheuer, Vera M.6, Author              
Ropers, Hans-Hilger4, Author              
Lenzner, Steffen3, Author
Affiliations:
1Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              
3Max Planck Society, ou_persistent13              
4Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
5High Throughput Technologies, Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433552              
6Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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 Abstract: 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.

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Language(s): eng - English
 Dates: 2005-01-01
 Publication Status: Published in print
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 Rev. Type: -
 Identifiers: eDoc: 273074
DOI: 0002-9297/2005/7602-0010
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Title: American Journal of Human Genetics
  Alternative Title : Am. J. Hum. Genet.
Source Genre: Journal
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Pages: - Volume / Issue: 76 (2) Sequence Number: - Start / End Page: 227 - 236 Identifier: ISSN: 0002-9297