DMWD (gene)
Dystrophia myotonica WD repeat-containing protein is a protein that in humans is encoded by the DMWD gene.[5][6]
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| Aliases | DMWD, D19S593E, DMR-N9, DMRN9, gene59, dystrophia myotonica, WD repeat containing, DM1 locus, WD repeat containing | ||||||||||||||||||||||||
| External IDs | OMIM: 609857 MGI: 94907 HomoloGene: 22559 GeneCards: DMWD | ||||||||||||||||||||||||
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| Species | Human | Mouse | |||||||||||||||||||||||
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| Location (UCSC) | Chr 19: 45.78 – 45.79 Mb | Chr 7: 19.08 – 19.08 Mb | |||||||||||||||||||||||
| PubMed search | [3] | [4] | |||||||||||||||||||||||
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References
- GRCh38: Ensembl release 89: ENSG00000185800 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000030410 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- Jansen G, Mahadevan M, Amemiya C, Wormskamp N, Segers B, Hendriks W, O'Hoy K, Baird S, Sabourin L, Lennon G, et al. (Jun 1993). "Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs". Nat Genet. 1 (4): 261–6. doi:10.1038/ng0792-261. PMID 1302022. S2CID 26072532.
- "Entrez Gene: DMWD dystrophia myotonica, WD repeat containing".
Further reading
- Groenen P, Wieringa B (1999). "Expanding complexity in myotonic dystrophy". BioEssays. 20 (11): 901–12. doi:10.1002/(SICI)1521-1878(199811)20:11<901::AID-BIES5>3.0.CO;2-0. PMID 9872056.
- Wansink DG, Wieringa B (2004). "Transgenic mouse models for myotonic dystrophy type 1 (DM1)". Cytogenet. Genome Res. 100 (1–4): 230–42. doi:10.1159/000072859. PMID 14526185. S2CID 9981696.
- Jansen G, Bächner D, Coerwinkel M, et al. (1995). "Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus". Hum. Mol. Genet. 4 (5): 843–52. doi:10.1093/hmg/4.5.843. PMID 7633444.
- Shaw DJ, McCurrach M, Rundle SA, et al. (1994). "Genomic organization and transcriptional units at the myotonic dystrophy locus". Genomics. 18 (3): 673–9. doi:10.1016/S0888-7543(05)80372-6. PMID 7905855.
- Mahadevan MS, Amemiya C, Jansen G, et al. (1993). "Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene". Hum. Mol. Genet. 2 (3): 299–304. doi:10.1093/hmg/2.3.299. PMID 8499920.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Alwazzan M, Newman E, Hamshere MG, Brook JD (1999). "Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat". Hum. Mol. Genet. 8 (8): 1491–7. doi:10.1093/hmg/8.8.1491. PMID 10400997.
- Eriksson M, Hedberg B, Carey N, Ansved T (2001). "Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers". Biochem. Biophys. Res. Commun. 286 (5): 1177–82. doi:10.1006/bbrc.2001.5516. PMID 11527424.
- Frisch R, Singleton KR, Moses PA, et al. (2001). "Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy". Mol. Genet. Metab. 74 (1–2): 281–91. doi:10.1006/mgme.2001.3229. PMID 11592825.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Grimwood J, Gordon LA, Olsen A, et al. (2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–35. doi:10.1038/nature02399. PMID 15057824.
- Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
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