Title |
Mutations in the FTSJ1 Gene Coding for a Novel S-Adenosylmethionine–Binding Protein Cause Nonsyndromic X-Linked Mental Retardation
|
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Published in |
American Journal of Human Genetics, May 2004
|
DOI | 10.1086/422507 |
Pubmed ID | |
Authors |
Kristine Freude, Kirsten Hoffmann, Lars-Riff Jensen, Martin B. Delatycki, Vincent des Portes, Bettina Moser, Ben Hamel, Hans van Bokhoven, Claude Moraine, Jean-Pierre Fryns, Jamel Chelly, Jozef Gécz, Steffen Lenzner, Vera M. Kalscheuer, Hans-Hilger Ropers |
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 approximately 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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Japan | 1 | 2% |
Unknown | 64 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 18 | 28% |
Researcher | 14 | 22% |
Student > Bachelor | 8 | 12% |
Student > Master | 8 | 12% |
Professor | 4 | 6% |
Other | 7 | 11% |
Unknown | 6 | 9% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 21 | 32% |
Agricultural and Biological Sciences | 20 | 31% |
Neuroscience | 6 | 9% |
Medicine and Dentistry | 4 | 6% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 3% |
Other | 4 | 6% |
Unknown | 8 | 12% |