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

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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]
Copyright of Science (pre-March 2025) is the property of American Association for the Advancement of Science and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA.
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  Data: <searchLink fieldCode="AR" term="%22Edery%2C+Patrick%22">Edery, Patrick</searchLink><br /><searchLink fieldCode="AR" term="%22Marcaillou%2C+Charles%22">Marcaillou, Charles</searchLink><br /><searchLink fieldCode="AR" term="%22Sahbatou%2C+Mourad%22">Sahbatou, Mourad</searchLink><br /><searchLink fieldCode="AR" term="%22Labalme%2C+Audrey%22">Labalme, Audrey</searchLink><br /><searchLink fieldCode="AR" term="%22Chastang%2C+Joelle%22">Chastang, Joelle</searchLink><br /><searchLink fieldCode="AR" term="%22Touraine%2C+Renaud%22">Touraine, Renaud</searchLink><br /><searchLink fieldCode="AR" term="%22Tubacher%2C+Emmanuel%22">Tubacher, Emmanuel</searchLink><br /><searchLink fieldCode="AR" term="%22Senni%2C+Faiza%22">Senni, Faiza</searchLink><br /><searchLink fieldCode="AR" term="%22Bober%2C+Michael+B%2E%22">Bober, Michael B.</searchLink><br /><searchLink fieldCode="AR" term="%22Nampoothiri%2C+Sheela%22">Nampoothiri, Sheela</searchLink><br /><searchLink fieldCode="AR" term="%22Jouk%2C+Pierre-Simon%22">Jouk, Pierre-Simon</searchLink><br /><searchLink fieldCode="AR" term="%22Steichen%2C+Elisabeth%22">Steichen, Elisabeth</searchLink><br /><searchLink fieldCode="AR" term="%22Berland%2C+Siren%22">Berland, Siren</searchLink><br /><searchLink fieldCode="AR" term="%22Toutain%2C+Annick%22">Toutain, Annick</searchLink><br /><searchLink fieldCode="AR" term="%22Wise%2C+Carol+A%2E%22">Wise, Carol A.</searchLink><br /><searchLink fieldCode="AR" term="%22Sanlaville%2C+Damien%22">Sanlaville, Damien</searchLink><br /><searchLink fieldCode="AR" term="%22Rousseau%2C+Francis%22">Rousseau, Francis</searchLink><br /><searchLink fieldCode="AR" term="%22Clerget-Darpoux%2C+Françoise%22">Clerget-Darpoux, Françoise</searchLink><br /><searchLink fieldCode="AR" term="%22Leutenegger%2C+Anne-Louise%22">Leutenegger, Anne-Louise</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Science+%28pre-March+2025%29%22">Science (pre-March 2025)</searchLink>. 4/8/2011, Vol. 332 Issue 6026, p240-243. 4p.
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  Data: <searchLink fieldCode="DE" term="%22Nucleoproteins%22">Nucleoproteins</searchLink><br /><searchLink fieldCode="DE" term="%22Microcephaly%22">Microcephaly</searchLink><br /><searchLink fieldCode="DE" term="%22Dwarfism%22">Dwarfism</searchLink><br /><searchLink fieldCode="DE" term="%22Human+abnormality+genetics%22">Human abnormality genetics</searchLink><br /><searchLink fieldCode="DE" term="%22RNA+splicing%22">RNA splicing</searchLink><br /><searchLink fieldCode="DE" term="%22Messenger+RNA%22">Messenger RNA</searchLink><br /><searchLink fieldCode="DE" term="%22Phenotypes%22">Phenotypes</searchLink><br /><searchLink fieldCode="DE" term="%22Genetics%22">Genetics</searchLink><br /><searchLink fieldCode="DE" term="%22Disease+risk+factors%22">Disease risk factors</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: 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]
– Name: AbstractSuppliedCopyright
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  Data: <i>Copyright of Science (pre-March 2025) is the property of American Association for the Advancement of Science and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=60193346
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        Value: 10.1126/science.1202205
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        Text: English
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      – SubjectFull: Nucleoproteins
        Type: general
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      – SubjectFull: Dwarfism
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      – SubjectFull: RNA splicing
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      – SubjectFull: Phenotypes
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