Gene Conversion during Primate Evolution

Gene conversion is a nonreciprocal recombination process. This originally represented a distortion of segregation of alleles in gametocytes. In evolutionary studies, however, this often means ‘the transfer of deoxyribonucleic acid (DNA) sequence information from one locus to another’. In evolutionary processes the gene conversion is frequently observed between tandemly duplicated sequences or between homologous sequences on a same chromosome. Significant roles of gene conversion between functional loci are generally in keeping their sequence and functional similarity in the ‘coevolution’ of interacting molecules. In addition, gene conversion often takes place between a functional gene and pseudogene. This mainly causes diseases, especially in humans.

Keywords: intra/interchromosomal gene conversion; diseases; concerted evolution; functional interaction; gene duplication

Figure 1. The relationship between recombination and gene conversion. Double DNA strands are depicted as double arrows. The orientation of each arrow indicates 5¢ to 3¢. Double-strand break occurred and to repair this break, Holliday junction is produced. For further repairing, the junction moves and produces the heteroduplex. When this heteroduplex is resolved, depending on the point of cutting DNA (a red arrow at resolution A or resolution B), outcome is either recombination or gene conversion.
Figure 2. Sliding window analysis of the number of nucleotide differences (p-distances) between human - and -globin genes. The sliding window size is 100 bp and the sliding interval is 10 bp. Depending on nucleotide differences, the entire gene is divided into four regions. The box and line under the x-axis show the position of exons and introns, respectively.
Figure 3. Gene organization of PKD1 and its pseudogene clusters in humans and chimpanzees. The length of arrows roughly represents the size of the gene. The orientation of arrows indicates an orientation of gene from 5¢ to 3¢. Phylogenies are constructed using the Neighbor-Joining method based on p-distances. A scale bar for each tree is indicated at the bottom of each tree.
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 References
    Angata T, Hayakawa T, Yamanaka M, Varki A and Nakamura M (2006) Discovery of Siglec-14, a novel sialic acid receptor undergoing concerted evolution with Siglec-5 in primates. FASEB Journal 20: 1964–1973.
    Bhowmick BK, Satta Y and Takahata N (2007) The origin and evolution of human ampliconic gene families and ampliconic structure. Genome Research 17: 441–450.
    Birot AM, Bouton O, Froissart R, Maire I and Bozon D (1996) IDS gene–pseudogene exchange responsible for an intrgenic deletion in a Hunter patient. Human Mutation 8: 44–50.
    Bischof JM, Chiang AP, Scheetz TE et al. (2006) Genome-wide identification of pseudogenes capable of disease-causing gene conversion. Human Mutation 27: 545–552.
    Bogdanova N, Markoff A, Gerke V et al. (2001) Homologues to the fist gene for autosomal dominant polycystic kidney disease are pseudogenes. Genomics 74: 333–341.
    De Marco P, Moroni A, Merello E et al. (2001) Folate pathway gene alterations in patients with neural tube defects. American Journal of Medical Genetics 95: 216–223.
    Donohoue PA, Jospe N, Migeon CJ and Dop CV (1989) Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B. Genomics 5: 397–406.
    Görlach A, Lee PL, Roesler J et al. (1997) A p47-phox pseudogene carries the most common mutation causing p47-phox-deficient chronic granulomatous disease. The Journal of Clinical Investigation 100: 1907–1918.
    Koop BF, Siemieniakg D, Slightom JL et al. (1989) Tarsius - and -globin genes: conversions, evolution, and systematic implications. The Journal of Biological Chemistry 264: 68–79.
    Lahn BT and Page DC (1999) Four evolutionary strata on the human X chromosome. Science 286: 964–967.
    Mancuso DJ, Tuley EA, Westfield LA et al. (1991) Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction. Biochemistry 30: 253–269.
    Minegishi Y, Coustan-Smith E, Wang YH et al. (1998) Mutations in the human l5/14 gene resulting B cell deficiency and agammaglobulinemia. Journal of Experimental Medicine 187: 71–77.
    Nakashima E, Mabuchi A, Makita Y et al. (2004) Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. Human Genetics 114: 345–348.
    Nei M and Rooney AP (2005) Concerted and birth-and-death evolution of multigene families. Annual Review of Genetics 39: 121–152.
    Vanita SV, Reis A, Jung M et al. (2001) A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene. Journal of Medical Genetics 38: 392–396.
    Vàzquez-Salat N, Yuhki N, Beck T, O'Brien SJ and Murphy WJ (2007) Gene conversion between mammalian CCR2 and CCR5 chemokine receptor genes: a potential mechanism for receptor dimerization. Genomics 90: 213–224.
    Watnick TJ, Gandolph MA, Weber H, Neumann HPH and Germino GG (1998) Gene conversion is a likely cause of mutation in PKD1. Human Molecular Genetics 7: 1239–1243.
    Zimran A, Sorge J, Gross E et al. (1990) A glucocerebrosidas fusion gene in Gaucher disease: implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. Journal of Clinical Investigation 85: 219–222.
 Further Reading
    Bailey JA and Eichler EE (2006) Primate segmental duplications: crucibles of evolution, diversity and disease. Nature Reviews Genetics 7: 552–564.
    Balakriev ES and Ayala FJ (2003) Pseudogenes: are they “junk” or functional DNA? Annual Review of Genetics 37: 123–151.
    Chen JM, Cooper DN, Chuzhanova N, Férec C and Patrinos GP (2007) Gene conversion: mechanisms, evolution and human disease. Nature Reviews Genetics 8: 762–775.
    Liu Y and West SC (2004) Happy Hollidays: 40th anniversary of the Holliday junction. Nature Reviews Molecular Cell Biology 5: 937–946.
    Prado F and Aguilera A (2003) Control of cross-over by single-strand DNA resection. Trends in Genetics 19: 428–431.
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Satta, Yoko(Mar 2008) Gene Conversion during Primate Evolution. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0020832]