LEPR (Leptin receptor)

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Human Uniqueness Compared to "Great Apes": 
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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.


Timing of appearance of the difference in the Hominin Lineage as a defined date or a lineage separation event. The point in time associated with lineage separation events may change in the future as the scientific community agrees upon better time estimates. Lineage separation events are defined in 2017 as:

  • the Last Common Ancestor (LCA) of humans and old world monkeys was 25,000 - 30,000 thousand (25 - 30 million) years ago
  • the Last Common Ancestor (LCA) of humans and chimpanzees was 6,000 - 8,000 thousand (6 - 8 million) years ago
  • the emergence of the genus Homo was 2,000 thousand (2 million) years ago
  • the Last Common Ancestor (LCA) of humans and neanderthals was 500 thousand years ago
  • the common ancestor of modern humans was 100 - 300 thousand years ago

Definite Appearance: 
6,000 thousand years ago
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Genetics Topic Attributes
Gene symbols follow the HUGO Gene Nomenclature Committee standard.
Gene Symbol Type of Human-Specific Changes
LEPR Alternate Splicing


  1. Genome-wide association study reveals a dynamic role of common genetic variation in infant and early childhood growth, Helgeland, Øyvind, Vaudel Marc, Juliusson Petur, Holmen Oddgeir Lingaas, Juodakis Julius, Bacelis Jonas, Jacobsson Bo, Lindekleiv Haakon, Hveem Kristian, Lie Rolv Terje, et al. , bioRxiv, 2018/01/01, (2018)
  2. Identification of human-specific transcript variants induced by DNA insertions in the human genome., Kim, Dong Seon, and Hahn Yoonsoo , Bioinformatics, 2011 Jan 1, Volume 27, Issue 1, p.14-21, (2011)
  3. Lys656Asn polymorphism of leptin receptor gene and metabolic syndrome in obese patients., De Luis, D A., M Sagrado Gonzalez, Aller R, Izaola O, Conde R, and Castro M J. , Eur Rev Med Pharmacol Sci, 05/2011, Volume 15, Issue 5, p.463-8, (2011)
  4. Leptin receptor isoform 219.1: an example of protein evolution by LINE-1-mediated human-specific retrotransposition of a coding SVA element., Damert, Annette, Löwer Johannes, and Löwer Roswitha , Mol Biol Evol, 04/2004, Volume 21, Issue 4, p.647-51, (2004)