In other species: horse

Categories: Pigmentation phene , Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 113750 (trait) , 609802 (gene)

Mendelian trait/disorder: unknown

Disease-related: unknown

Inheritance: Guo et al, (2023) "identified several albino individuals (complete or incomplete) during the breeding of Andrias davidianus, ... . However, such albino individuals are quite scarce, and their body color cannot be stably inherited ...."

Molecular basis: Guo et al, (2023) "performed transcriptome and small RNA (sRNA) sequencing analyses in the skin samples of wild-type (WT) and albino (AL) Andrias davidianus. In total, among 5517 differentially expressed genes (DEGs), 2911 DEGs were down-regulated in AL, including almost all the key genes involved in melanin formation. A total of 25 miRNAs were differentially expressed in AL compared to WT, of which 17 were up-regulated. Through the integrated analysis, no intersection was found between the target genes of the differentially expressed miRNAs and the key genes for melanin formation. ... After analyzing the key genes for melanin formation, it was interesting to note an alternative splicing form of the MITF in WT and a critical mutation of the SLC24A5 gene in AL, which might be the main reason for the skin color change of Andrias davidianus. ... The [SLC24A5] mutation was presented in a cysteine-rich region (CCTCC) on the intracellular loop of the transmembrane protein NCKX5 encoded by SLC24A5, named the 4C region ... . ... This mutation was manifested as a loss of three amino acid residues of CCT in the 4C region in the albino Andrias davidianus ... ."