Biology:SMCHD1

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Short description: Protein-coding gene in the species Homo sapiens

Structural Maintenance of Chromosomes flexible Hinge Domain Containing 1 (SMCHD1) is a protein that in humans is encoded by the SMCHD1 gene.[1][2] Mutations in SMCHD1 are causative for development of facioscapulohumeral muscular dystrophy type 2 (FSHD2)[3] and Bosma arhinia microphthalmia syndrome (BAMS).[4][5]

Without maternal SMCHD1 in the egg cell, children bear with altered skeletal structures.[6][7]

References

  1. ↑ Reference, Genetics Home. "SMCHD1 gene". United States National Library of Medicine. https://ghr.nlm.nih.gov/gene/SMCHD1. 
  2. ↑ "Entrez Gene: SMCHD1". https://www.ncbi.nlm.nih.gov/gene/23347. 
  3. ↑ "Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2". Nat Genet 44 (12): 1370–4. November 2012. doi:10.1038/ng.2454. PMID 23143600. 
  4. ↑ "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development". Nat Genet 49 (2): 249–255. February 2017. doi:10.1038/ng.3765. PMID 28067911. https://hal.archives-ouvertes.fr/hal-01617529/file/ng.3765.pdf. 
  5. ↑ "SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome". Nat Genet 49 (2): 238–248. February 2017. doi:10.1038/ng.3743. PMID 28067909. 
  6. ↑ WEHI (2022). "Rewriting Our Understanding of Epigenetics: Scientists Reveal We Inherit More Than Previously Thought". Nature Communications (SciTech Daily) 13 (1): 4295. doi:10.1038/s41467-022-32057-x. PMID 35879318. PMC 9314430. https://scitechdaily.com/rewriting-our-understanding-of-epigenetics-scientists-reveal-we-inherit-more-than-previously-thought/amp/. Retrieved September 13, 2022. 
  7. ↑ 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" (in en). Nature Communications 13 (1): 3583. doi:10.1038/s41467-022-31185-8. ISSN 2041-1723. PMID 35739109. Bibcode: 2022NatCo..13.3583X. 

Further reading

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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