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

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Bibliographic Details
Title:	Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA.
Authors:	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, Françoise, Leutenegger, Anne-Louise
Source:	Science (pre-March 2025). 4/8/2011, Vol. 332 Issue 6026, p240-243. 4p.
Subjects:	Nucleoproteins, Microcephaly, Dwarfism, Human abnormality genetics, RNA splicing, Messenger RNA, Phenotypes, Genetics, Disease risk factors
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. [ABSTRACT FROM AUTHOR]
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Database:	Psychology and Behavioral Sciences Collection

Description
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. [ABSTRACT FROM AUTHOR]
ISSN:	00368075
DOI:	10.1126/science.1202205