Forskning ved Københavns Universitet - Københavns Universitet


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.

TidsskriftAmerican Journal of Human Genetics
Udgave nummer2
Sider (fra-til)305-9
Antal sider5
StatusUdgivet - aug. 2004

ID: 138433984