Categories: Homeostasis / metabolism phene

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Disease-related: yes

Key variant known: no

Species-specific description: Approximately one-half of the heat produced in response to exposure to low temperatures (cold exposure) arises from non-shivering thermiogenesis, in which exposure to cold stimulates production of endogenous noradrenoline (NA), which in turn stimulates heat production from brown adipose tissue, via the oxidation of free fatty acids derived from the triglycerides in fatty tissue. While investigating the genetic basis of resistance to cold in lambs, Simpson and Slee (1988) measured the extent of non-shivering thermiogenesis in newborn lambs injected subcutaneously with a standard dose of NA. Offspring of one sire failed to show any non-shivering thermiogenesis. Subsequent investigations of planned matings showed that this lack of response to NA is due to a single gene which is most likely dominant.