RNU4ATAC
| RNU4ATAC | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | RNU4ATAC, MOPD1, RNU4ATAC1, TALS, U4ATAC, RFMN, RNA, U4atac small nuclear (U12-dependent splicing), LWS, U4atac | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 601428 GeneCards: 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.[3]
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[edit]
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[edit]
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.[3]
References[edit]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000264229 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: RNA, U4atac small nuclear (U12-dependent splicing)". Retrieved 2012-04-15.
Further reading[edit]
- Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL (Apr 2011). "Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA". Science. 332 (6026): 240–3. Bibcode:2011Sci...332..240E. doi:10.1126/science.1202205. PMID 21474761. S2CID 11354957.
- He H, Liyanarachchi S, Akagi K, Nagy R, Li J, Dietrich RC, Li W, Sebastian N, Wen B, Xin B, Singh J, Yan P, Alder H, Haan E, Wieczorek D, Albrecht B, Puffenberger E, Wang H, Westman JA, Padgett RA, Symer DE, de la Chapelle A (Apr 2011). "Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I". Science. 332 (6026): 238–40. Bibcode:2011Sci...332..238H. doi:10.1126/science.1200587. PMC 3380448. PMID 21474760.
- Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N (Nov 2011). "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. doi:10.1002/ajmg.a.34299. PMID 21990275. S2CID 8429347.
- Wollenberg P, Rummel W (Apr 1985). "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. doi:10.1007/bf00501212. PMID 2409455. S2CID 40062675.
- Shukla GC, Padgett RA (Jan 2004). "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. Bibcode:2004PNAS..101...93S. doi:10.1073/pnas.0304919101. PMC 314144. PMID 14691257.
- Tarn WY, Steitz JA (Sep 1996). "Highly diverged U4 and U6 small nuclear RNAs required for splicing rare AT-AC introns". Science. 273 (5283): 1824–32. Bibcode:1996Sci...273.1824T. doi:10.1126/science.273.5283.1824. PMID 8791582. S2CID 2638546.
- Nottrott S, Urlaub H, Lührmann R (Oct 2002). "Hierarchical, clustered protein interactions with U4/U6 snRNA: a biochemical role for U4/U6 proteins". The EMBO Journal. 21 (20): 5527–38. doi:10.1093/emboj/cdf544. PMC 129076. PMID 12374753.
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