Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606603 (gene) , 614940 (trait) , 614941 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: unknown

Key variant known: yes

Year key variant first reported: 2023

Species-specific name: Scaleless

Species-specific symbol: scl

Species-specific description: Tzika et al. (2023): "Scaleless corn snakes ..., originating from the hybridization of a corn snake and a Great Plains rat snake (Pantherophis emoryi), were first reported in 2002 by a private breeder. These animals lack dorsal and lateral scales, whereas the transversely elongated ventral scales are present, although they are always split in two (right and left) or more parts. Small, isolated dorsolateral scales are occasionally present ... ."

Molecular basis: Tzika et al. (2023) "sequenced whole-genome libraries of the two parental DNA samples [a scaleless female (scl/scl) and a heterozygous scaled male (+/scl)] and of two DNA pools from homozygous and heterozygous offspring ... ." The authors identified a likely causal variant: "a 2-nucleotide (nt) deletion (TAC to T) was found within the coding sequence of the ectodysplasin A receptor–associated adapter gene (EDARADD) at position 39,572,202 of Super-Scaffold_423. The deletion occurs in exon 6 at position 182 of the 215–amino acid protein. It introduces a frameshift, resulting in a premature STOP codon at that exact place by changing the TGT triplet (cysteine) to TAA (STOP) and a protein shorter by 33 amino acids." CRISPR-Cas9–mediated gene disruption was used for functional analysis.

Genetic engineering: Yes - in addition to the occurrence of natural variants, variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene: