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AQP7 (aquaporin 7)

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What is MOCA?
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Human Uniqueness Compared to "Great Apes": 
Likely Difference
MOCA Domain: 
Genetics
MOCA Topic Authors: 
Laura Dumas
James Sikela

The AQP7 gene shows a human lineage-specific (HLS) copy number increase in humans compared to great apes, monkeys, and prosimians. This copy number increase (at least 5 copies in humans vs. 1-3 in chimpanzees and other apes) was detected by cDNA array-based comparative genomic hybridization (Fortna et al. 2004). Aquaporins are thought to play a key role in water transport across membranes (Preston et al. 1992), and of the eight aquaporin family members assayed, the only one that showed an HLS copy number increase was AQP7 (Dumas et al. 2007; Fortna et al. 2004). AQP7 is also an aquaglyceroporin, and in addition to water, AQP7 is also capable of transporting glycerol, an energy storage molecule. Most of the AQP7 copies map to the pericentromeric region of chr 9, one of the most evolutionarily dynamic regions of the human genome and the location of the greatest concentration of HLS gene copy number increases (Dumas et al. 2007; Fortna et al. 2004). The HLS increase in copy number of AQP7 is a candidate to play a role in thermoregulation (sweating) and energy mobilization (via glycerol transport) from fat to muscle, adaptations that may have contributed to the enhanced capacity for endurance running found in humans (Dumas et al. 2007; Bramble and Lieberman 2004).

Genetics Topic Attributes

Gene symbols follow the HUGO Gene Nomenclature Committee standard.

Gene Symbol:
AQP7 (AQP7: aquaporin 7)
Type of Human-Specific Changes:
Copy Number Changes
Related MOCA Topics
Related Topics:
TitleCertainty
Eccrine Sweat GlandsSpeculative
Sustained Running BehaviorSpeculative
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

 

Probable Appearance: 
5000 Thousand Years
Definite Appearance: 
2000 Thousand Years
The Human Difference: 

Types of Human-Specific Changes in AQP7:

Copy Number Variation

Accelerated evolution

References: 

Dumas L, Kim YH, Karimpour-Fard A, Cox M, Hopkins J, Pollack JR, Sikela JM. Gene copy number variation spanning 60 million years of human and primate evolution. Genome Res. 2007;17:1266–1277.

 

Fortna A., Kim Y., MacLaren E., Marshall K., Hahn G., Meltesen L., Brenton M., Hink R., Burgers S., Hernandez-Boussard T., Kim Y., MacLaren E., Marshall K., Hahn G., Meltesen L., Brenton M., Hink R., Burgers S., Hernandez-Boussard T., MacLaren E., Marshall K., Hahn G., Meltesen L., Brenton M., Hink R., Burgers S., Hernandez-Boussard T., Marshall K., Hahn G., Meltesen L., Brenton M., Hink R., Burgers S., Hernandez-Boussard T., Hahn G., Meltesen L., Brenton M., Hink R., Burgers S., Hernandez-Boussard T., Meltesen L., Brenton M., Hink R., Burgers S., Hernandez-Boussard T., Brenton M., Hink R., Burgers S., Hernandez-Boussard T., Hink R., Burgers S., Hernandez-Boussard T., Burgers S., Hernandez-Boussard T., Hernandez-Boussard T., et al. Lineage-specific gene duplication and loss in human and great ape evolution. PLoS Biol. 2004;2:937–954.

 

Preston G.M., Carroll T.P., Guggino W.B., Agre P., Carroll T.P., Guggino W.B., Agre P., Guggino W.B., Agre P., Agre P. Appearance of water channels in Xenopus oocytes expressing red cell CHIP28 protein. Science. 1992;256:385–387.

 

 

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