Biology:RNU4ATAC
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RNA, U4atac small nuclear (U12-dependent splicing) is a small nuclear RNA that in humans is encoded by the RNU4ATAC gene.[1]
The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor spliceosome complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome is required for the splicing of approximately 700 specific introns in the human genome.
Genomics
The RNU4ATAC gene is located on chromosome 2 (2q14.2). It is a single copy gene that is embedded within an intron of the protein coding CLASP1 gene but is transcribed in the antisense direction from CLASP1.
Clinical importance
Defects in this gene are a cause of several human inherited syndromes all of which show autosomal recessive inheritance. These include Taybi Linder syndrome (microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1), Roifman syndrome and Lowry-Wood syndrome.[1]
References
Further reading
- "Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA". Science 332 (6026): 240–3. Apr 2011. doi:10.1126/science.1202205. PMID 21474761. Bibcode: 2011Sci...332..240E.
- "Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I". Science 332 (6026): 238–40. Apr 2011. doi:10.1126/science.1200587. PMID 21474760. Bibcode: 2011Sci...332..238H.
- "A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder". American Journal of Medical Genetics Part A 155A (11): 2885–96. Nov 2011. doi:10.1002/ajmg.a.34299. PMID 21990275.
- "Influence of phosphate, sulfonic, and sulfamic acids on sulfoconjugate release in the vascularly perfused mouse small intestine". Naunyn-Schmiedeberg's Archives of Pharmacology 329 (2): 195–200. Apr 1985. doi:10.1007/bf00501212. PMID 2409455.
- "U4 small nuclear RNA can function in both the major and minor spliceosomes". Proceedings of the National Academy of Sciences of the United States of America 101 (1): 93–8. Jan 2004. doi:10.1073/pnas.0304919101. PMID 14691257. Bibcode: 2004PNAS..101...93S.
- "Highly diverged U4 and U6 small nuclear RNAs required for splicing rare AT-AC introns". Science 273 (5283): 1824–32. Sep 1996. doi:10.1126/science.273.5283.1824. PMID 8791582. Bibcode: 1996Sci...273.1824T.
- "Hierarchical, clustered protein interactions with U4/U6 snRNA: a biochemical role for U4/U6 proteins". The EMBO Journal 21 (20): 5527–38. Oct 2002. doi:10.1093/emboj/cdf544. PMID 12374753.
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