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  Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

Freude, K., Hoffmann, K., Jensen, L.-R., Delatycki, M. B., des Portes, V., Moser, B., et al. (2004). Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. American Journal of Human Genetics, 75(2), 305-309.

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

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 Creators:
Freude, Kristine1, Author
Hoffmann, Kirsten1, Author
Jensen, Lars-Riff2, Author           
Delatycki, Martin B., Author
des Portes, Vincent, Author
Moser, Bettina1, Author
Hamel, Ben, Author
van Bokhoven, Hans, Author
Moraine, Claude, Author
Fryns, Jean-Pierre, Author
Chelly, Jamel, Author
Gécz, Jozef, Author
Lenzner, Steffen1, Author
Kalscheuer, Vera M.3, Author           
Ropers, Hans-Hilger4, Author           
Affiliations:
1Max Planck Society, ou_persistent13              
2Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Chromosome 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              
4Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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 Abstract: Nonsyndromic X-linked mental retardation (NSXLMR) is a very heterogeneous condition, and most of the underlying gene defects are still unknown. Recently, we have shown that ∼30% of these genes cluster on the proximal Xp, which prompted us to perform systematic mutation screening in brain-expressed genes from this region. Here, we report on a novel NSXLMR gene, FTSJ1, which harbors mutations in three unrelated families—one with a splicing defect, one with a nonsense mutation, and one with a deletion of one nucleotide. In two families, subsequent expression studies showed complete absence or significant reduction of mutant FTSJ1 transcripts. FTSJ1 protein is a homolog of Escherichia coli RNA methyltransferase FtsJ/RrmJ and may play a role in the regulation of translation. Further studies aim to elucidate the function of human FTSJ1 and its role during brain development.

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Language(s): eng - English
 Dates: 2004-05-25
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 224389
 Degree: -

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Title: American Journal of Human Genetics
  Alternative Title : Am. J. Hum. Genet.
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 75 (2) Sequence Number: - Start / End Page: 305 - 309 Identifier: ISSN: 0002-9297