Rare Diseases Symptoms Automatic Extraction

Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation.

[oculocutaneous albinism]

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.

Diseases presenting "pigmentation" symptom

  • aniridia
  • congenital adrenal hyperplasia
  • congenital toxoplasmosis
  • cushing syndrome
  • epidermolysis bullosa simplex
  • erythropoietic protoporphyria
  • gm1 gangliosidosis
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • kallmann syndrome
  • kindler syndrome
  • oculocutaneous albinism
  • oral submucous fibrosis
  • phenylketonuria
  • proteus syndrome
  • wiskott-aldrich syndrome

This symptom has already been validated