Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

作者：Edery Patrick^*; Marcaillou Charles; Sahbatou Mourad; Labalme Audrey; Chastang Joelle; Touraine Renaud; Tubacher Emmanuel; Senni Faiza; Bober Michael B; Nampoothiri Sheela; Jouk Pierre Simon; Steichen Elisabeth; Berland Siren; Toutain Annick; Wise Carol A; Sanlaville Damien; Rousseau Francis; Clerget Darpoux Francoise; Leutenegger Anne Louise

来源：Science, 2011, 332(6026): 240-243.

DOI：10.1126/science.1202205

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.

• 出版日期2011-4-8
• 单位河北医科大学