TY - JOUR
T1 - Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA
AU - Edery, Patrick
AU - Marcaillou, Charles
AU - Sahbatou, Mourad
AU - Labalme, Audrey
AU - Chastang, Joelle
AU - Touraine, Renaud
AU - Tubacher, Emmanuel
AU - Senni, Faiza
AU - Bober, Michael B.
AU - Nampoothiri, Sheela
AU - Jouk, Pierre Simon
AU - Steichen, Elisabeth
AU - Berland, Siren
AU - Toutain, Annick
AU - Wise, Carol A.
AU - Sanlaville, Damien
AU - Rousseau, Francis
AU - Clerget-Darpoux, Françoise
AU - Leutenegger, Anne Louise
PY - 2011/4/8
Y1 - 2011/4/8
N2 - 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.
AB - 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.
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U2 - 10.1126/science.1202205
DO - 10.1126/science.1202205
M3 - Article
C2 - 21474761
AN - SCOPUS:79953819024
SN - 0036-8075
VL - 332
SP - 240
EP - 243
JO - Science
JF - Science
IS - 6026
ER -