Mitf and oca2
WebHere we demonstrate that the HERC2 rs12913832 region functions as an enhancer regulating OCA2 transcription. In darkly pigmented human melanocytes carrying the rs12913832 T-allele, we detected binding of the transcription factors HLTF, LEF1, and MITF to the HERC2 rs12913832 enhancer, and a long-range chromatin loop between this … Web本研究以栗羽朝鲜鹌鹑和白羽朝鲜鹌鹑作为研究对象,选择与羽色性状相关的OCA2和MITF基因作为候选基因,开展了候选基因的克隆、表达、单核苷酸多态性检测及其与羽色性状的 …
Mitf and oca2
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Web25 jul. 2014 · OCA2 gene has showed 10 SNPs which are predicted to create 29 binding sites for miRNA. Out of 10 SNPs, the SNP rs985 creates binding site for 12 miRNAs for … Weboca2 Regulation of chromatophore differentiation and number is cell type specific in zebrafish. We characterized a zebrafish mutant that displays defects in melanin …
Web12 jul. 2013 · The OCA2 gene is of particular interest, because different haplotypes are associated with pigmentary traits in Europeans and East Asians. Variants located in the … WebRESULTS: OCA2 variants rs12913832 and rs916977 were significantly associated with time to first cSCC post-transplant. OTRs homozygous for the brown-eye alleles of rs916977 …
Web4 jan. 2014 · Overview of the OCA2‐HERC2 locus. The OCA2 and HERC2 genes are located in the 15q11‐q13 chromosomal region. Melanocyte open chromatin by DNaseI HS from ENCODE (Encode and Consortium, 2011) is shown in black. 100 vertebrates conservation by PhastCons is shown in green.The approximate position of the … Web16 dec. 2014 · OCA2 shares little homology with known chloride channels or transporters; OCA2 might be an accessory subunit of a Cl − transporter or form a Cl − channel or …
Web1 jun. 2013 · Oculocutaneous albinism (OCA) is the most famous syndrome of hypopigmentation in coat colouration and eye-colour and vision disorders; in OCA, the reduced production of pigments often results in serious dysfunction of the eye.
WebMITF is a key transcription factor in melanocyte pigment gene expression and regulates OCA2 gene expression. MITF binds to intron 86 region of HERC2. Question 6. Based on … hedyotis salzmaniiWeb21 mrt. 2024 · MITF (Melanocyte Inducing Transcription Factor) is a Protein Coding gene. Diseases associated with MITF include Tietz Albinism-Deafness Syndrome and Melanoma, Cutaneous Malignant 8 . Among its … hedypnois rhagadioloidesWeb27 jan. 2015 · IRF4 expression levels depend on the allelic status of rs12203592. RT–qPCR analysis of IRF4 transcripts (A) in all epidermal skin samples and (B) in only light epidermal skin samples with either the rs12203592 CC-genotype (all: n = 25; lights: n = 13) or with the combinational rs12203592 CT- and TT-genotypes (n = 4) demonstrates reduced IRF4 … hedy nassarWeb9 mrt. 2024 · CREB-mediated expression of MITF ... , 84 OCA2 (oculocutaneous albinism type 2), 51, 84 SLC24A5 (solute carrier family 24 member 5) 78, 84, 87 but the SNPs in SLC45A2/MATP, OCA2 and SLC24A5 are also present across all other skin types (Table 2). Both Indian and Caucasian skin share polymorphism in TYR ... hedypnoisWebDownload scientific diagram MITF Regulates Expression of IRF4 (A) ... For instance, slc24a5, tyrp1b, oca2, tyr, and pmela were determined to affect human pigmentation ... hedy tammelehtWebNX_Q04671 - OCA2 - P protein - Function. ... LEF1, and MITF to the HERC2 rs12913832 enhancer, and a long-range chromatin loop between this enhancer and the OCA2 … heed suomeksiWebMITF and MC1R have been reported to have a digenic inheritance with TYR and OCA2 (Morell et al. 1997. PubMed ID: 9158138; Preising et al. 2011. PubMed ID: 21541274). … hedyotis salzmannii