Publication Type:

Journal Article


Science, Volume 332, Number 6026, p.240-243 (2011)



article, Base Pairing, bone malformation, Brain, brain malformation, Cell Line, child, Chromosomes, controlled study, developmental disorder, Dwarfism, female, Fetal Growth Retardation, gene expression, human, human cell, Humans, infant, inheritance, intron, Introns, Inverted Repeat Sequences, male, microcephaly, Microtubule-Associated Proteins, newborn death, Nucleic Acid Conformation, Osteochondrodysplasias, Pair 2, Pedigree, perinatal period, phenotype, point mutation, Preschool, priority journal, protein, RNA, RNA Splice Sites, RNA splicing, Small Nuclear, small nuclear RNA, spliceosome, Spliceosomes, splicing defect, sudden death, survival, taybi linder syndrome


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. Copyright 2011 by the American Association for the Advancement of Science; all rights reserved.


cited By (since 1996)35

Cite this Research Publication

Pab Edery, Marcaillou, Cc, Sahbatou, Md, Labalme, Aa, Chastang, Ja, Touraine, Re, Tubacher, Ed, Senni, Fa, Bober, M. Bf, Nampoothiri, Sg, Jouk, P. - Shi, Steichen, Ej, Berland, Skl, Toutain, Amn, Wise, C. Ao, Sanlaville, Dab, Rousseau, Fc, Clerget-Darpoux, Fpq, and Leutenegger, A. - Lrs, “Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA”, Science, vol. 332, pp. 240-243, 2011.