Recombinant Human Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMCHD1), partial

1. Regions necessary for SMCHD1 protein nuclear localization, dimerization, and cleavage sites were identified. PMID: 30071896
2. we report two Japanese FSHD2 siblings (brother and sister) with a new SMCHD1 nonsense mutation (a heterogeneous c. 1654C>T substitution, leading to a stop codon Arg552 *). PMID: 30327220
3. We discuss the involvement of this rearrangement in Facioscapulohumeral dystrophy (FSHD), since all mutations in SMCHD1 are not associated with D4Z4 hypomethylation and do not always segregate with the disease PMID: 28744936
4. SMCHD1 acts as a repressor on a limited set of autosomal gene clusters, as an observed reduction in methylation associates with a loss of SMCHD1 binding and increased expression for some of the loci. PMID: 28587678
5. We summarise here current understanding of the mechanism of action of SMCHD1, its role in these diseases, and what has been learnt from study of mouse models null for Smchd1 in the decade since the discovery of SMCHD1 PMID: 28222895
6. Mutations in SMCHD1 thus contribute to distinct phenotypic spectra. PMID: 28067909
7. SMCHD1 as a key player in nasal development. PMID: 28067911
8. SMCHD1 mutations cause Bosma arhinia microphthalmia syndrome. PMID: 28138148
9. Study identified novel SMCHD1 mutations in a Japanese cohort of facioscapulohumeral muscular dystrophy 2 patients, confirming the presence of this disease in a wider population than previously known PMID: 27061275
10. This study demonstrated that the the linkage peak revealed a variant (rs574972) within an intron of the gene SMCHD1 is linkaged to major depression in Mexican Americans. PMID: 26485182
11. The synergistic effect has been demonstrated of two SMCHD1 variants on D4Z4 hypomethylation site and disease penetrance in facioscapulohumeral muscular dystrophy-2 patients. PMID: 25782668
12. In the case of FSHD1, a contraction of the D4Z4 repeat array is disease causing whereas FSHD2 is most often caused by mutations in the structural maintenance of chromosomes hinge domain 1 (SMCHD1) gene. PMID: 26356006
13. Two facioscapulohumeral muscular dystrophy type 2 families with a 1.2-Mb deletion encompassing the SMCHD1 gene are described; they have only one copy of SMCHD1. PMID: 25820463
14. An indirect interaction mediated by the LRIF1 and HP1 proteins loads SMCHD1 onto chromatin marked by trimethylation of histone H3 lysine 9 (H3K9me3). PMID: 26391951
15. findings confirm the role of SMCHD1 mutations in FSHD2 and as a modifier of disease severity. PMID: 25370034
16. This approach was successfully employed in the context of the in silico prediction of potential remotely acting regulatory elements for the SMCHD1 gene. Subsequent sequencing of these predicted regions identified three sequence variants in FSHD patients PMID: 26446085
17. SmcHD1 is an important regulator of imprinted and clustered genes PMID: 24818964
18. SMCHD1 recruitment to DNA damage foci is regulated by 53BP1. PMID: 25294876
19. study reports a novel mutation p.Lys275del in SMCHD1 in a family with facioscapulohumeral muscular dystrophy 2; conclude that the SMCHD1 mutation is the likely cause of the disease in this family PMID: 24128691
20. Each of these individuals also carries a mutation in the SMCHD1 gene. PMID: 24075187
21. Thus, the molecular network involving HBiX1 (previously termed C1orf103) and SMCHD1 links the H3K9me3 and XIST-H3K27me3 domains to organize the compact inactive X chromosome structure. PMID: 23542155
22. our observations collectively highlight a hitherto uncharacterized role for SMCHD1 as a candidate tumor suppressor gene in hematopoietic cancers. PMID: 23269277
23. The study identified SMCHD1 as an epigenetic modifier of the D4Z4 metastable epiallele and as a causal genetic determinant of facioscapulohumeral muscular dystrophy type 2 and possibly other human diseases subject to epigenetic regulation. PMID: 23143600

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HGNC: 29090

OMIM: 158901

KEGG: hsa:23347

STRING: 9606.ENSP00000326603

UniGene: Hs.8118