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NAIP (NLR family, apoptosis inhibitory protein )

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

NLR family, apoptosis inhibitory protein (NAIP) is involved in suppression of apoptosis by inhibiting initiation of apoptosome formation. NAIP copies are found within a 500kb 15q13 inverted duplication region that is highly prone to rearrangements and deletions. Deletions in this region that include the SMN1 gene have been implicated in spinal muscular atrophy, an autosomal recessive neuromuscular disorder that leads to loss and dysfunction of motor neurons, The majority of cases where these deletions include NAIP often result in a more severe form of the disease. NAIP has approximately 1-4 more copies in the human genome than any other primate. The implications of these copies is thus far unknown.

Genetics Topic Attributes

Gene symbols follow the HUGO Gene Nomenclature Committee standard.

Gene Symbol:
NAIP (NAIP: NLR family, apoptosis inhibitory 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: 

Amara A, Adala L, Ben Charfeddine I, Mamaï O, Mili A, Lazreg TB, H'mida D, Amri F, Salem N, Boughammura L, Saad A, Gribaa M. Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients. Eur J Paediatr Neurol. 2011 Aug 5. [Epub ahead of print] PMID: 21821450

 

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

 

Davoodi J, Ghahremani MH, Es-Haghi A, Mohammad-Gholi A, Mackenzie A. Neuronal apoptosis inhibitory protein, NAIP, is an inhibitor of procaspase-9. Int J Biochem Cell Biol. 2010 Jun;42(6):958-64. PMID: 20171302

 

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

 

Arkblad E, Tulinius M, Kroksmark AK, Henricsson M, Darin N. (2009) A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. Acta Paediatr. 98(5):865-72. PMID: 19154529

 

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
 

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