SMCHD1

SMCHD1
Identifiers
Aliases	SMCHD1 , structural maintenance of chromosomes flexible hinge domain containing 1, BAMS, FSHD2
External IDs	OMIM: 614982; MGI: 1921605; HomoloGene: 23665; GeneCards: SMCHD1; OMA:SMCHD1 - orthologs
Gene location (Human) Chr. Chromosome 18 (human) [1] Band 18p11.32 Start 2,655,726 bp [1] End 2,805,017 bp [1]
Gene location (Mouse) Chr. Chromosome 17 (mouse) [2] Band 17|17 E1.3 Start 71,651,484 bp [2] End 71,782,338 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon epithelium of colon blood bone marrow cells monocyte superficial temporal artery right lung granulocyte jejunal mucosa spleen Top expressed in hand genital tubercle ventricular zone tail of embryo cumulus cell vas deferens condyle epiblast spleen Gonadal ridge More reference expression data BioGPS n/a
Gene ontology Molecular function ATP binding ATPase activity DNA binding protein binding hydrolase activity protein homodimerization activity Cellular component chromosome Barr body site of double-strand break Biological process dosage compensation by inactivation of X chromosome chromosome organization nose development double-strand break repair DNA repair chromatin organization cellular response to DNA damage stimulus positive regulation of DNA repair inactivation of X chromosome by heterochromatin assembly negative regulation of double-strand break repair via homologous recombination positive regulation of double-strand break repair via nonhomologous end joining Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23347 74355 Ensembl ENSG00000101596 ENSMUSG00000024054 UniProt A6NHR9 Q6P5D8 RefSeq (mRNA) NM_015295 NM_028887 RefSeq (protein) NP_056110 NP_083163 Location (UCSC) Chr 18: 2.66 – 2.81 Mb Chr 17: 71.65 – 71.78 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000101596 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024054 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Reference, Genetics Home. "SMCHD1 gene". Genetics Home Reference. United States National Library of Medicine . Retrieved 2020-07-10.
6. "Entrez Gene: SMCHD1" . Retrieved 2020-06-09.
7. 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.
8. 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.
9. 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.
10. 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.
11. 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)