2. Academic Validation
  3. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

  • Science. 2011 Apr 8;332(6026):240-3. doi: 10.1126/science.1202205.
Patrick Edery 1,  Charles Marcaillou,  Mourad Sahbatou,  Audrey Labalme,  Joelle Chastang,  Renaud Touraine,  Emmanuel Tubacher,  Faiza Senni,  Michael B Bober,  Sheela Nampoothiri,  Pierre-Simon Jouk,  Elisabeth Steichen,  Siren Berland,  Annick Toutain,  Carol A Wise,  Damien Sanlaville,  Francis Rousseau,  Françoise Clerget-Darpoux,  Anne-Louise Leutenegger
Affiliations

Affiliation

  • 1 Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Bron, F-69677, France. patrick.edery@chu-lyon.fr
PMID: 21474761 DOI: 10.1126/science.1202205
Abstract

The spliceosome, a ribonucleoprotein complex that includes proteins and small nuclear RNAs (snRNAs), catalyzes RNA splicing through intron excision and exon ligation to produce mature messenger RNAs, which, in turn serve as templates for protein translation. We identified four point mutations in the U4atac snRNA component of the minor spliceosome in patients with brain and bone malformations and unexplained postnatal death [microcephalic osteodysplastic primordial dwarfism type 1 (MOPD 1) or Taybi-Linder syndrome (TALS); Mendelian Inheritance in Man ID no. 210710]. Expression of a subgroup of genes, possibly linked to the disease phenotype, and minor intron splicing were affected in cell lines derived from TALS patients. Our findings demonstrate a crucial role of the minor spliceosome component U4atac snRNA in early human development and postnatal survival.

Figures