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LEPR (Leptin receptor)

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Human Uniqueness Compared to "Great Apes": 
Likely Difference
MOCA Domain: 
Genetics
MOCA Topic Authors: 
Majesta O'Bleness
James Sikela

The Leptin receptor (LEPR) is a cytokine receptor that is involved in the regulation of fat metabolism. Mutations in this gene are associated with obesity and pituitary dysfunction. The LEPR gene has an SVA insertion that lead to a novel C-terminal exon. Implications for this additional exon in human are not understood.

Genetics Topic Attributes

Gene symbols follow the HUGO Gene Nomenclature Committee standard.

Gene Symbol:
LEPR (LEPR: leptin receptor)
Type of Human-Specific Changes:
Alternate Splicing
Related MOCA Topics
Related Topics:
TitleCertainty
SVA (SINE/VNTR/Alu) Element Expansion True
Timing

Timing of Appearance of the Difference in the Hominin Lineage.

For this entry assume that

  • the common ancestor of humans and old world monkeys was 25000 thousand (25 million) years ago
  • the common ancestor of humans and chimpanzees was 6000 thousand (6 million) years ago
  • the emergence of the genus Homo was 2000 thousand (2 million) years ago
  • the common ancestor of modern humans was 100 thousand years ago

 

Definite Appearance: 
6000 Thousand Years
References: 

De Luis DA, Gonzalez Sagrado M, Aller R, Izaola O, Conde R, Castro MJ. Lys656Asn polymorphism of leptin receptor gene and metabolic syndrome in obese patients. Eur Rev Med Pharmacol Sci. 2011 May;15(5):463-8. PMID: 21744741

 

Kim DS and Hahn Y. (2011) Identification of human-specific transcript variants induced by DNA insertions in the human genome. Bioinformatics 27(1):14-21.PMID: 21037245

 

Damert A, Löwer J, Löwer R. (2004) Leptin receptor isoform 219.1: an example of protein evolution by LINE-1-mediated human-specific retrotransposition of a coding SVA element. Mol Biol Evol. 21(4):647-51. PMID: 14739249

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