anti-Structural Maintenance of Chromosomes Flexible Hinge Domain Containing 1 (SMCHD1) Antikörper

Mouse (Murine) Structural Maintenance of Chromosomes Flexible Hinge Domain Containing 1 (SMCHD1) Interaktionspartner

1. A mutation in SMCHD1 gene reported in both an FSHD2 patient and a BAMS patient results in increased ATPase activity and a smaller Xenopus eye size.

2. de-repression of X-inactivated genes accompanied a local reduction in the enrichment of Histone3K27me3 in mouse embryonic fibroblasts deficient for SmcHD1.

3. This study demonstrated that the hinge domain of Smchd1 probably adopts an unconventional homodimeric arrangement augmented by an intermolecular coiled coil formed between the two monomers.

4. An indirect interaction mediated by the LRIF1 and HP1 proteins loads SMCHD1 onto chromatin marked by trimethylation of histone H3 lysine 9 (H3K9me3).

5. Data suggest that structural maintenance of chromosomes flexible hinge domain containing 1 (Smchd1) imparts epigenetic regulation via physical association with chromatin.

6. SmcHD1 is an important regulator of imprinted and clustered genes

7. Genome-wide expression analysis showed that Smchd1 is required for the silencing of around 10% of the genes on the inactive X chromosome, apparently independent of CpG island hypomethylation, and, moreover, that these genes nonrandomly occur in clusters.

8. Smchd1-dependent CGI methylation, the primary pathway, is acquired gradually over an extended period, whereas Smchd1-independent CGI methylation occurs rapidly after the onset of X inactivation

9. Reduced dosage of the modifiers of epigenetic reprogramming Dnmt1, Dnmt3L, SmcHD1 and Foxo3a has no detectable effect on mouse telomere length in vivo.

10. SmcHD1 is not required for correct Xist expression, but localizes to the inactive X and has a role in the maintenance of X inactivation and the hypermethylation of CpG islands associated with the inactive X.

Human Structural Maintenance of Chromosomes Flexible Hinge Domain Containing 1 (SMCHD1) Interaktionspartner

1. A mutation in SMCHD1 gene reported in both an FSHD2 patient and a BAMS patient results in increased ATPase activity and a smaller Xenopus eye size.

2. Regions necessary for SMCHD1 protein nuclear localization, dimerization, and cleavage sites were identified.

3. 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 *).

4. 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

5. 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.

6. 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

7. Mutations in SMCHD1 thus contribute to distinct phenotypic spectra.

8. SMCHD1 as a key player in nasal development.

9. SMCHD1 mutations cause Bosma arhinia microphthalmia syndrome.

10. 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

11. 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.

12. The synergistic effect has been demonstrated of two SMCHD1 variants on D4Z4 hypomethylation site and disease penetrance in facioscapulohumeral muscular dystrophy-2 patients.

13. 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.

14. 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.

15. An indirect interaction mediated by the LRIF1 and HP1 proteins loads SMCHD1 onto chromatin marked by trimethylation of histone H3 lysine 9 (H3K9me3).

16. findings confirm the role of SMCHD1 mutations in FSHD2 and as a modifier of disease severity.

17. 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

18. SmcHD1 is an important regulator of imprinted and clustered genes

19. SMCHD1 recruitment to DNA damage foci is regulated by 53BP1.

20. 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