C1orf103
- Known as:
- C1orf103
- Catalog number:
- 002814A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- C1orf103
Related genes to: C1orf103
- Gene:
- LRIF1 NIH gene
- Name:
- ligand dependent nuclear receptor interacting factor 1
- Previous symbol:
- C1orf103
- Synonyms:
- RIF1, FLJ11269
- Chromosome:
- 1p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2005-06-03
- Date modifiied:
- 2017-08-03
Related products to: C1orf103
Related articles to: C1orf103
- Facioscapulohumeral muscular dystrophy (FSHD) is a genetically and epigenetically complex autosomal dominant myopathy that presents formidable challenges to molecular diagnosis and reproductive intervention. The disease is caused by aberrant derepression of the retrogene within the D4Z4 macrosatellite repeat array at chromosome 4q35, triggered either by pathological contraction of the array on a permissive 4qA haplotype (FSHD1, ~95% of cases) or by mutations in epigenetic modifier genes , , and that lead to global D4Z4 hypomethylation (FSHD2, ~5% of cases). Traditional approaches (Southern blotting, optical genome mapping, bisulfite sequencing) are discontinuous and labor-intensive. Nanopore ultra-long read sequencing spans the entire D4Z4 array in single reads, simultaneously resolving repeat number, haplotype, and allele-specific CpG methylation without bisulfite conversion. With the telomere-to-telomere (T2T-CHM13) reference genome, long-range haplotype phasing enables preimplantation genetic testing for monogenic conditions (PGT-M) for families with de novo pathogenic variants and somatic mosaicism, groups previously excluded from reproductive genetic intervention. This review systematically examines FSHD molecular mechanisms, the Nanopore diagnostic workflow integrated with T2T-CHM13, Nanopore-based PGT-M clinical data, and future perspectives including R11 pore chemistry, AI-driven bioinformatics, CRISPR-targeted enrichment, and multi-omics integration. - Source: PubMed
Publication date: 2026/09/11
Li JingjingCheng YongjieSu LinYan ChengyuanCao Zhenhua - The chromosomal protein SMCHD1 is a GHKL ATPase with important roles in epigenetic silencing, including on the inactive X chromosome (Xi). Mutations of SMCHD1 have been linked to facioscapulohumeral muscular dystrophy (FSHD) and Bosma arrhinia microphthalmia syndrome (BAMS). Here, we use live-cell and single-molecule imaging to investigate SMCHD1 interactions with chromatin and its function in epigenetic silencing. We show that chromatin binding of SMCHD1 genome-wide, including on the Xi, is critically dependent on the protein LRIF1 that mediates interaction with H3K9me2/3-modified nucleosomes. Engineered mutations in the GHKL ATPase domain demonstrate that ATP hydrolysis is required for selective enrichment of SMCHD1 at specific chromatin regions, which is critical for X-linked gene silencing. Conversely, gain-of-function BAMS-associated mutations are linked to accelerated Xi recruitment and gene silencing, or increased Xi compaction. Together, our findings advance understanding of SMCHD1 recruitment and function on the Xi and at other target sites in the genome. - Source: PubMed
Publication date: 2026/06/16
Constantinescu FlaviaSzczurek Aleksander TNesterova Tatyana BWei GuifengAlmeida MafaldaKelley Jessica RPustygina VictoriaUphoff StephanCawte Adam DBrockdorff Neil
- Source: PubMed
- The DUX4 transcription factor is briefly expressed in the early embryo and is epigenetically repressed in somatic tissues. Loss of epigenetic repression can result in the aberrant expression of DUX4 in skeletal muscle and can cause facioscapulohumeral dystrophy (FSHD). Multiple factors have been identified as necessary to maintain epigenetic silencing of DUX4 in skeletal muscle, but whether specific sequences at the DUX4 locus are sufficient for initiating epigenetic silencing has not been known. We cloned fragments of the D4Z4 macrosatellite repeat, the DNA region that encompasses the DUX4 retrogene, adjacent to a reporter driven by a constitutive promoter and identified a single fragment sufficient to epigenetically repress reporter gene expression. Previously identified repressors of DUX4 expression-SETDB1, ATF7IP, SIN3A/B, and LRIF1-were necessary for silencing activity and p38 inhibitors enhanced suppression. These findings identify a key regulatory sequence for D4Z4 epigenetic repression and establish a model system for mechanistic and discovery studies. - Source: PubMed
Paatela Ellen MSt Amant Faith GHamm Danielle CBennett Sean RGujral Taranjit Svan der Maarel Silvère MTapscott Stephen J - The DUX4 transcription factor is briefly expressed in the early embryo and is epigenetically repressed in somatic tissues. Loss of epigenetic repression can result in the aberrant expression of DUX4 in skeletal muscle and can cause facioscapulohumeral dystrophy (FSHD). Multiple factors have been identified as necessary to maintain epigenetic silencing of in skeletal muscle, but whether specific sequences at the locus are sufficient for epigenetic silencing has been unknown. We cloned fragments of the D4Z4 macrosatellite repeat, the DNA region that encompasses the retrogene, adjacent to a reporter driven by a constitutive promoter and identified a single fragment sufficient to epigenetically repress reporter gene expression. Previously identified suppressors of expression-SETDB1, ATF7IP, SIN3A/B, and LRIF1-were necessary for silencing activity and p38 inhibitors enhanced suppression. These findings identify a key regulatory sequence for D4Z4 epigenetic repression and establish a model system for mechanistic and discovery studies. - Source: PubMed
Publication date: 2025/02/23
Paatela Ellen MSt Amant Faith GHamm Danielle CBennett Sean RGujral Taranjit Svan der Maarel Silvère MTapscott Stephen J