Categories: Pigmentation phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 611740 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: no

Key variant known: no

Inheritance: Andrade et al. (2019):"The association at the BCO2 locus was also highly significant (recessive model, P = 1.2 × 10−15), with most individuals displaying yellow coloration (yellow and orangeyellow) being homozygous (27 of 28 individuals) for one allele (hereafter y) and 34 of 36 individuals displaying white coloration (white and orange-white) being heterozygous (n = 21) or homozygous (n = 13) for the alternative allele (hereafter Y)."

Molecular basis: Andrade et al. (2019): "The association for yellow coloration in BCO2 was strong both upstream and overlapping part of the coding region . . . ; however, we found no mutations strongly associated with yellow coloration that could alter the protein structure of BCO2 (nonsynonymous, stop, splicing, or frameshift). We thus hypothesized that the pigmentation differences are controlled by regulatory sequence variation."

Associated gene: