Categories: Pigmentation phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 605668 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2024

Species-specific description: Brown-and-white giant pandas are distinct coat color mutants first reported in 1985 in the Qinling Mountains, Shaanxi, China (Guan et al., 2024).

Molecular basis: Guan et al. (2024) "identified the genetic basis for [the white and brown] coat color variation using a combination of field ecological data, population genomic data, and a CRISPR-Cas9 knockout mouse model. [The aurhors] de novo assembled a long-read-based giant panda genome and resequenced the genomes of 35 giant pandas, including two brown pandas and two family trios associated with a brown panda. [The authors] identified a homozygous 25-bp deletion in the first exon of Bace2, a gene encoding amyloid precursor protein cleaving enzyme, as the most likely genetic basis for brown-and-white coat color. This deletion was further validated using PCR and Sanger sequencing of another 192 black giant pandas and CRISPR-Cas9 edited knockout mice. [The] investigation revealed that this mutation reduced the number and size of melanosomes of the hairs in knockout mice and possibly in the brown panda, further leading to the hypopigmentation."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene: