SMCHD1
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Structural Maintenance of Chromosomes flexible Hinge Domain Containing 1 (SMCHD1) is a protein that in humans is encoded by the SMCHD1 gene.[5][6] Mutations in SMCHD1 are causative for development of facioscapulohumeral muscular dystrophy type 2 (FSHD2)[7] and Bosma arhinia microphthalmia syndrome (BAMS).[8][9]
Without maternal SMCHD1 in the egg cell, children bear with altered skeletal structures.[10][11]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000101596 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024054 – 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.
- ^ Reference, Genetics Home. "SMCHD1 gene". Genetics Home Reference. United States National Library of Medicine. Retrieved 2020-07-10.
- ^ "Entrez Gene: SMCHD1". Retrieved 2020-06-09.
- ^ Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, et al. (November 2012). "Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2". Nat Genet. 44 (12): 1370–4. doi:10.1038/ng.2454. PMC 3671095. PMID 23143600.
- ^ Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, et al. (February 2017). "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development" (PDF). Nat Genet. 49 (2): 249–255. doi:10.1038/ng.3765. PMID 28067911. S2CID 205353193.
- ^ Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, et al. (February 2017). "SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome". Nat Genet. 49 (2): 238–248. doi:10.1038/ng.3743. PMC 5473428. PMID 28067909.
- ^ WEHI (2022). "Rewriting Our Understanding of Epigenetics: Scientists Reveal We Inherit More Than Previously Thought". Nature Communications. 13 (1). SciTech Daily: 4295. doi:10.1038/s41467-022-32057-x. PMC 9314430. PMID 35879318. Retrieved September 13, 2022.
- ^ Xue, Shifeng; Ly, Thanh Thao Nguyen; Vijayakar, Raunak S.; Chen, Jingyi; Ng, Joel; Mathuru, Ajay S.; Magdinier, Frederique; Reversade, Bruno (2022-06-23). "HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring". Nature Communications. 13 (1): 3583. Bibcode:2022NatCo..13.3583X. doi:10.1038/s41467-022-31185-8. ISSN 2041-1723. PMC 9226161. PMID 35739109.
Further reading
- Jansz N, Chen K, Murphy JM, Blewitt ME (2017). "The Epigenetic Regulator SMCHD1 in Development and Disease". Trends Genet. 33 (4): 233–243. doi:10.1016/j.tig.2017.01.007. PMID 28222895.
External links
- PDBe-KB provides an overview of all the structure information available in the PDB for Structural Maintenance of Chromosomes flexible Hinge Domain Containing 1 (SMCHD1)
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