2021年5月18日 · We report a selective differentiation impairment in CRTC3 KO melanocytes and melanoma cells, due to downregulation of oculo-cutaneous albinism II (OCA2) and block of melanosome maturation. CRTC3 stimulates OCA2 expression by binding to CREB on a conserved enhancer, a regulatory site for pigmentation and melanoma risk.

2018年9月15日 · We have leveraged the CRISPR/Cas9 genome editing techniques to characterize the effects of mutations in oculocutaneous albinism II (oca2), a candidate gene hypothesized to be responsible for the evolution of albinism in A. mexicanus cave populations.

2024年1月10日 · We found that independent mutations in an OCA2 enhancer contribute to the evolution of human skin color diversity and detect signals of local adaptation at enhancers of MITF, LEF1 and TRPS1,...

Defects in melanosome function cause albinism, characterized by vision and pigmentation deficits, impaired retinal development, and increased susceptibility to skin and eye cancers. The most common form of albinism is caused by mutations in oculocutaneous albinism II (OCA2), a melanosome-specific transmembrane protein with unknown function.

2022年11月15日 · Further disruption of oca2 by CRISPR/Cas9 gene editing system generated abnormal red individuals, and the DNA sequencing exhibited perturbation of peaks in the sgRNA targeted region, confirming the key function of oca2 gene in coloration of Yellow River carp.

2015年4月28日 · Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene () and gene, respectively. The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families.

We report a selective differentiation impairment in CRTC3 KO mela-nocytes and melanoma cells, due to downregulation of oculo-cutaneous albinism II (OCA2) and block of melanosome maturation. CRTC3 stimulates OCA2 expression by binding to CREB on a conserved enhancer, a regulatory site for pigmentation and melanoma risk.

2024年12月25日 · OCA2 (OCA2 Melanosomal Transmembrane Protein) is a Protein Coding gene. Diseases associated with OCA2 include Albinism, Oculocutaneous, Type Ii and Skin/Hair/Eye Pigmentation, Variation In, 1. Among its related pathways are Metabolism and Peptide chain elongation.

OCA2 encodes a pigment cell-specific, 12-transmembrane domain protein with homology to ion permeases. G780S is located in one of the extracellular topological domains of OCA2. Several studies demonstrated the function of OCA2 as a positive regulator of pH neutralization and melanogenesis promotion [12,13].

We report a selective differentiation impairment in CRTC3 KO melanocytes and melanoma cells, due to downregulation of oculo-cutaneous albinism II (OCA2) and block of melanosome maturation. CRTC3 stimulates OCA2 expression by binding to CREB on a conserved enhancer, a regulatory site for pigmentation and melanoma risk.