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|Title:||Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation|
des Portes, V.
van Bokhoven, H.
|Citation:||American Journal of Human Genetics, 2004; 75(2):305-309|
|Publisher:||Univ Chicago Press|
|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, and 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 not, vert, similar30% 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.|
|Keywords:||Chromosomes, Human, X; Humans; Mental Retardation, X-Linked; Methyltransferases; Nuclear Proteins; Blotting, Northern; Pedigree; Sequence Analysis, DNA; Molecular Sequence Data; Adult; Child, Preschool; Infant; Female; Male|
|Rights:||Copyright © 2004 The American Society of Human Genetics Published by Elsevier Inc.|
|Appears in Collections:||Paediatrics publications|
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