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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • 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
  • Freude, Kristine

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.

OriginalsprogEngelsk
TidsskriftAmerican Journal of Human Genetics
Vol/bind75
Udgave nummer2
Sider (fra-til)305-9
Antal sider5
ISSN0002-9297
DOI
StatusUdgivet - aug. 2004

ID: 138433984