2-AIN-505, 2-AIN-251: Seminár z bioinformatiky (1) a (3)
Zima 2015
Abstrakt

Katja Nowick, Christopher Fields, Tim Gernat, Derek Caetano-Anolles, Nadezda Kholina, Lisa Stubbs. Gain, loss and divergence in primate zinc-finger genes: a rich resource forevolution of gene regulatory differences between species. PLoS One, 6(6):e21553. 2011.

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Abstract:

The molecular changes underlying major phenotypic differences between humans and 
other primates are not well understood, but alterations in gene regulation are
likely to play a major role. Here we performed a thorough evolutionary analysis
of the largest family of primate transcription factors, the Kruppel-type zinc
finger (KZNF) gene family. We identified and curated gene and pseudogene models
for KZNFs in three primate species, chimpanzee, orangutan and rhesus macaque, to 
allow for a comparison with the curated set of human KZNFs. We show that the
recent evolutionary history of primate KZNFs has been complex, including many
lineage-specific duplications and deletions. We found 213 species-specific KZNFs,
among them 7 human-specific and 23 chimpanzee-specific genes. Two human-specific 
genes were validated experimentally. Ten genes have been lost in humans and 13 in
chimpanzees, either through deletion or pseudogenization. We also identified 30
KZNF orthologs with human-specific and 42 with chimpanzee-specific sequence
changes that are predicted to affect DNA binding properties of the proteins.
Eleven of these genes show signatures of accelerated evolution, suggesting
positive selection between humans and chimpanzees. During primate evolution the
most extensive re-shaping of the KZNF repertoire, including most gene additions, 
pseudogenizations, and structural changes occurred within the subfamily
homininae. Using zinc finger (ZNF) binding predictions, we suggest potential
impact these changes have had on human gene regulatory networks. The large
species differences in this family of TFs stands in stark contrast to the overall
high conservation of primate genomes and potentially represents a potent driver
of primate evolution.