Human Lineage‐specific Gene Inactivation

Pseudogenes are nonfunctional vestiges of genes. Investigating genes that were inactivated specifically on the human lineage can reveal the genetic basis of inter-species differences between humans and chimpanzees and inter-individual differences within humans. It can also help to understand the specific selective pressures that were altered during human evolution.

Keywords: human; evolution; chimpanzee; pseudogene

Figure 1. Nucleotide diversity in the CASPASE12 gene in noncoding regions of the pseudogenized allele and functional allele. The exon structure for CASPASE12 is shown in thick blue bars. Nucleotide diversity () is significantly lower near the disrupting mutation (*) in exon 4 of the CASPASE12 pseudogenized allele (red) than is observed in the functional allele (green). Red circles and green dots show the percent nucleotide diversity in the pseudogenized and functional alleles, respectively, at each of nine noncoding regions within and around the gene (black bars). The rectangles surrounding the dots and squares show ±1 standard error. The green dotted line is the average nucleotide diversity for the functional allele. The decreased diversity in the pseudogenized allele near the disrupting mutation is indicative of a selective sweep for this pseudogenized allele. Adapted from Wang et al. (2006).
Figure 2. The relative size of chewing muscles differs greatly between humans and their primate relatives as a result of pseudogenization of human MYH16. The differences in musculature are reflected in the morphology of such craniofacial features as the temporal fossa and zygomatic arch (highlighted in red) in skulls from macaque (a–c), gorilla (d–f) and human (g–i). Adapted by permission from Macmillan Publishers Ltd., Stedman et al., Copyright (2004).
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 Further Reading
    Balakirev ES and Ayala FJ (2003) Pseudogenes: are they “junk” or functional DNA. Annual Review of Genetics 37: 123–151.
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    Gerstein M and Zheng D (2006) The real life of pseudogenes. Scientific American 295: 48–55.
    Xue Y, Daly A, Yngvadottir B et al. (2006) Spread of an inactive form of caspase-12 in humans is due to recent positive selection. American Journal of Human Genetics 78: 659–670.
 Web Links
    ePath Comprehensive pseudogene database http://www.pseudogene.org
    ePath Human Olfactory Receptor Database Exploratorium http://bioportal.weizmann.ac.il/HORDE/
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How to Cite close
Grus, Wendy E, and Zhang, Jianzhi(May 2008) Human Lineage‐specific Gene Inactivation. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0020835]