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- W2004787807 endingPage "177" @default.
- W2004787807 startingPage "169" @default.
- W2004787807 abstract "Mutations within the OCA2 gene or the complete absence of the OCA2 protein leads to oculocutaneous albinism type 2. The OCA2 protein plays a central role in melanosome biogenesis, and it is a strong determinant of the eumelanin content in melanocytes. Transcript levels of the OCA2 gene are strongly correlated with pigmentation intensities. Recent studies demonstrated that the transcriptional level of OCA2 is to a large extent determined by the noncoding SNP rs12913832 located 21.5 kb upstream of the OCA2 gene promoter. In this review, we discuss current hypotheses and the available data on the mechanism of OCA2 transcriptional regulation and how this is influenced by genetic variation. Finally, we will explore how future epigenetic studies can be used to advance our insight into the functional biology that connects genetic variation to human pigmentation." @default.
- W2004787807 created "2016-06-24" @default.
- W2004787807 creator A5022876579 @default.
- W2004787807 creator A5054937522 @default.
- W2004787807 creator A5056347519 @default.
- W2004787807 creator A5086458944 @default.
- W2004787807 date "2014-02-17" @default.
- W2004787807 modified "2023-09-27" @default.
- W2004787807 title "Genetic variation in regulatory DNA elements: the case of<i>OCA2</i>transcriptional regulation" @default.
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- W2004787807 doi "https://doi.org/10.1111/pcmr.12210" @default.
- W2004787807 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24387780" @default.
- W2004787807 hasPublicationYear "2014" @default.