Repeated mutation of a developmental enhancer contributed to human thermoregulatory evolution.

ABSTRACT: Humans sweat to cool their bodies and have by far the highest eccrine sweat gland density among primates. Humans' high eccrine gland density has long been recognized as a hallmark human evolutionary adaptation, but its genetic basis has been unknown. In humans, expression of the Engrailed 1 (EN1) transcription factor correlates with the onset of eccrine gland formation. In mice, regulation of ectodermal En1 expression is a major determinant of natural variation in eccrine gland density between strains, and increased En1 expression promotes the specification of more eccrine glands. Here, we show that regulation of EN1 has evolved specifically on the human lineage to promote eccrine gland formation. Using comparative genomics and validation of ectodermal en

SUBMITTER: Aldea D 

PROVIDER: S-EPMC8072367 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature