Ask about this productRelated genes to: ZFP57 antibody
- Gene:
- ZFP57 NIH gene
- Name:
- ZFP57 zinc finger protein
- Previous symbol:
- C6orf40
- Synonyms:
- ZNF698, bA145L22, bA145L22.2
- Chromosome:
- 6p22.1
- Locus Type:
- gene with protein product
- Date approved:
- 2003-11-26
- Date modifiied:
- 2018-11-22
Related products to: ZFP57 antibody
Related articles to: ZFP57 antibody
- Nonsyndromic cleft lip (nsCL) exhibits a non-random laterality pattern, with left-sided clefts occurring twice as frequently as right-sided clefts. The molecular mechanisms underlying this laterality bias remain poorly understood. We performed whole-genome sequencing and methylation profiling on a family comprising monozygotic twins with mirror-image nsCL, their affected mother, and unaffected father and brother. We conducted three independent replications via publicly available whole genome data; genome-wide methylation analysis in 38 individuals with unilateral cleft; and validation of methylation results in the top 3 candidate genes in 385 unrelated individuals with unilateral nonsyndromic cleft lip with or without cleft palate (nsCL/P) (DNA from blood or saliva). We identified a variant in FGF20 (p.Ile79Val) shared by the twins and their mother. We observed laterality and severity-associated methylation differences in three main genes. ARID5B showed higher methylation in left clefts (saliva, P = .001; blood, P = .032). ZFP57 demonstrated a strong cleft-extent effect, with cleft lip and palate (CLP) showing markedly higher methylation than cleft lip only (CL) (LCLP vs. RCL padj = 0.0004; LCLP vs. LCL padj = 0.019). HOOK2 displayed a cross-tissue cleft-extent effect in the opposite direction-CLP subtypes were hypomethylated relative to CL-only subtypes in blood (P < .0001) and saliva (P = .0008). This study provides evidence that DNA methylation patterns play a role in both the laterality and severity of cleft lip. ARID5B provides a consistent laterality signal across tissues, while ZFP57 and HOOK2 track palatal involvement independently of side. Together, these findings suggest that epigenetic variation acts downstream of genetic predisposition to shape cleft phenotypes. - Source: PubMed
Petrin Aline LAwotoye WaheedSpencer Christina EMachado-Paula Ligiane AHovey LukeKeen HenryChimenti MichaelBreheny PatrickQian FangDabdoub ShareefThomas James CButali AzeezMurray Jeffrey CVenugopalan Shankar RengasamyMoreno-Uribe Lina M - Genomic imprinting secures parent-specific gene expression through differential DNA methylation at imprinted control regions (ICRs). However, how unmethylated alleles resist de novo methylation remains unclear. Using an allelic Dlk1-Dio3 ICR methylation reporter and genome-wide loss-of-function screening, we identify the zinc finger protein GZF1 that binds the unmethylated maternal ICR and protects it from de novo methylation via a regulatory element containing GZF1 and ZFP57 motifs that mediates mutually exclusive, methylation-dependent binding. Loss of either factor causes reciprocal imprinting failure: Gzf1 loss induces maternal allele methylation, H3K4me3 depletion, and silencing of maternal transcripts, whereas Zfp57 loss results in maternalization. Remarkably, GZF1 protects the unmethylated ICR from de novo methylation in both oocytes and embryos, and its loss leads to perinatal death consistent with paternalization of the maternal allele. Together, our findings establish a reciprocal mechanism that maintains parental epigenetic asymmetry across both imprint establishment and embryonic reprogramming. - Source: PubMed
Publication date: 2026/09/02
Toren ArikHoffman LironMiodownik IrinaMayshar YoavBen-Yair RazOrenbuch Ayelet-HashaharRubinstein HernanLifshitz AviezerStok Ranen RoniWainstein AlexanderSheban DaoudShlush LiranTanay AmosAfek ArielStelzer Yonatan
- Source: PubMed
- Common genetic variants are associated with risk of lung and autoimmune diseases. However, we have a limited understanding of the pathological effects of these disease variants, specifically in tissue-resident immune cells at the frontier of infection and disease in the lung. To address this, we performed single-cell expression quantitative trait locus (eQTL) analysis across 29 distinct immune cell subsets isolated from lung tissue. Colocalization analysis of lung immune cell eQTLs with genome-wide association study (GWAS) signals from lung diseases, and infectious and autoimmune diseases, implicate disease-associated variants and their target genes functioning in a single or restricted group of cell types. Several genes, including ZFP57, showed significant colocalization between lung immune cell eQTLs and GWAS signals from multiple systemic and organ-restricted autoimmune diseases, highlighting shared genetic mechanisms underlying the risk of disease. Overall, our study shows that disease-associated variants from a wide range of autoimmune diseases impact gene expression in tissue-resident immune cell types ( https://lung.dice-database.org ). - Source: PubMed
Publication date: 2026/08/03
Schmiedel Benjamin JGonzalez-Colin CristianFajardo-Rosas VicenteRocha JobSimon HayleyOttensmeier JohannesRamírez-Bernabé Ignacio ECano AprilDe la Cruz Castillo AngelMárquez-Gómez ElizabethHa BrendanGreenbaum Jason AChudley LindseyCave JudithAlzetani AimanWoo EdwinShackcloth MichaelChee Serena JChandra VivekKronenberg MitchellPeters BjoernOttensmeier Christian HGanesan Anusha-PreethiVijayanand Pandurangan - DNA methylation is one of the most important epigenetic processes that regulates gene expression. Although the human genome is predominantly methylated, CpG-rich regions known as CpG islands (CGIs) are typically unmethylated and are often sites of transcriptional control. Although the importance of CGIs and DNA methylation at the promoters is well understood, the significance of CGIs at the 3' ends remains largely unexplored. In this study, we characterised CGIs overlapping 3' untranslated regions (3'UTRs), compared them with CGIs located at the promoters, and examined their association with gene expression in cancer. We found that 3% of CGIs overlap 3'UTRs and have no annotated promoters in the vicinity. Unlike promoter CGIs, 3'UTR CGIs are shorter, less CpG-dense, but evolutionarily conserved. Although promoter CGIs typically stay unmethylated, those in 3'UTRs are often methylated and enriched for transcription factors like ZFP57, which target methylated motifs. These regions are linked to cancer signalling pathways, and their differential methylation in tumours correlates with gene expression changes, suggesting an underexplored regulatory role in cancer. - Source: PubMed
Publication date: 2026/07/24
Wilson ClaireKanhere Aditi