NAIP (NLR family, apoptosis inhibitory protein )

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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: 
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.

Timing

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

Probable Appearance: 
2,000 thousand years ago
Definite Appearance: 
6,000 thousand years ago
Genetics Topic Attributes
Gene symbols follow the HUGO Gene Nomenclature Committee standard.
Gene Symbol Type of Human-Specific Changes
NAIP Copy Number Changes

References

  1. Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients., Amara, Abdelbasset, Adala Labiba, Ben Charfeddine Ilhem, Mamaï Ons, Mili Amira, Ben Lazreg Taheni, H'mida Dorra, Amri Fathi, Salem Najla, Boughammura Lamia, et al. , Eur J Paediatr Neurol, 03/2012, Volume 16, Issue 2, p.167-74, (2012)
  2. Diversity of human copy number variation and multicopy genes., Sudmant, Peter H., Kitzman Jacob O., Antonacci Francesca, Alkan Can, Malig Maika, Tsalenko Anya, Sampas Nick, Bruhn Laurakay, Shendure Jay, and Eichler Evan E. , Science, 10/2010, Volume 330, Issue 6004, p.641-6, (2010)
  3. Identification of human specific gene duplications relative to other primates by array CGH and quantitative PCR., Armengol, Gemma, Knuutila Sakari, Lozano Juan-José, Madrigal Irene, and Caballín María-Rosa , Genomics, 2010 Apr, Volume 95, Issue 4, p.203-9, (2010)
  4. Neuronal apoptosis inhibitory protein, NAIP, is an inhibitor of procaspase-9., Davoodi, Jamshid, Ghahremani Mohammad-Hossein, Es-Haghi Ali, Mohammad-Gholi Azadeh, and Mackenzie Alex , Int J Biochem Cell Biol, 10/2010, Volume 42, Issue 6, p.958-64, (2010)
  5. A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy., Arkblad, Eva, Tulinius Már, Kroksmark Anna-Karin, Henricsson Mirja, and Darin Niklas , Acta Paediatr, 05/2009, Volume 98, Issue 5, p.865-72, (2009)
  6. Lineage-specific gene duplication and loss in human and great ape evolution., Fortna, A., Kim Y., MacLaren E., Marshall K., Hahn G., Meltesen L., Brenton M., Hink R., Burgers S., Hernandez-Boussard T., et al. , PLoS Biol, 07/2004, Volume 2, Issue 7, p.E207, (2004)

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