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PDE4DIP (Phosphodiesterase 4D interacting protein)

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

Phosphodiesterase 4D Interacting Protein (PDE4DIP), also known as myomegalin, is a protein localized to the golgi and centrosome. It is an anchor protein for members of the cAMP pathway, PDE4D and PKA, and SANS, a protein important to the function of retinal photoreceptors. PDE4DIP has been proposed to play important roles in cognitive function, eye sight, and cardiac contraction. PDE4DIP has 2-4 more copies in the human genome than any other primate. The significance of these copies is unknown.

Genetics Topic Attributes

Gene symbols follow the HUGO Gene Nomenclature Committee standard.

Gene Symbol:
PDE4DIP (PDE4DIP: phosphodiesterase 4D interacting protein)
Type of Human-Specific Changes:
Copy Number Changes
Related MOCA Topics
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: 
2000 Thousand Years
Definite Appearance: 
6000 Thousand Years
References: 

Overlack NL, Kilic D, Bauß K, Märker T, Kremer H, van Wijk E, Wolfrum U. Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina. Biochim Biophys Acta. 2011 Jul 15. [Epub ahead of print] PMID: 21767579


Uys GM, Ramburan A, Loos B, Kinnear CJ, Korkie LJ, Mouton J, Riedemann J, Moolman-Smook JC. Myomegalin is a novel A-kinase anchoring protein involved in the phosphorylation of cardiac myosin binding protein C. BMC Cell Biol. 2011 May 10;12:18. PMID: 21569246


Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project, Eichler EE. Diversity of human copy number variation and multicopy genes. Science. 2010 Oct 29;330(6004):641-6. PMID: 21030649
 

 

Armengol G, Knuutila S, Lozano JJ, Madrigal I, Caballín MR. (2010) Identification of human specific gene duplications relative to other primates by array CGH and quantitative PCR. Genomics 95(4):203-9. PMID:20153417



Cheng Z, Ventura M, She X, Khaitovich P, Graves T, et al. (2005) A genome-wide comparison of recent chimpanzee and human segmental duplications. Nature 437: 88–93. PMID: 16136132

 

Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L, Brenton M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour-Fard A, Glueck D, McGavran L, Berry R, Pollack J, Sikela JM. (2004) Lineage-specific gene duplication and loss in human and great ape evolution. PLoS Biol 2(7):E207. PMID: 15252450

 

Verde I, Pahlke G, Salanova M, Zhang G, Wang S, Coletti D, Onuffer J, Jin SL, Conti M. Myomegalin is a novel protein of the golgi/centrosome that interacts with a cyclic nucleotide phosphodiesterase. J Biol Chem. 2001 Apr 6;276(14):11189-98. PMID: 11134006

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