Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
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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.
Original language | English |
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Journal | American Journal of Human Genetics |
Volume | 75 |
Issue number | 2 |
Pages (from-to) | 305-9 |
Number of pages | 5 |
ISSN | 0002-9297 |
DOIs | |
Publication status | Published - Aug 2004 |
- Adult, Blotting, Northern, Child, Preschool, Chromosomes, Human, X, Female, Humans, Infant, Male, Mental Retardation, X-Linked, Methyltransferases, Molecular Sequence Data, Nuclear Proteins, Pedigree, Sequence Analysis, DNA
Research areas
ID: 138433984