Genetic recombination as a major cause of mutagenesis in the human globin gene clusters.
OBJECTIVE
Homologous recombination is a frequent phenomenon in multigene families and as such it occurs several times in both the alpha- and beta-like globin gene families. In numerous occasions, genetic recombination has been previously implicated as a major mechanism that drives mutagenesis in the human globin gene clusters, either in the form of unequal crossover or gene conversion. Unequal crossover results in the increase or decrease of the human globin gene copies, accompanied in the majority of cases with minor phenotypic consequences, while gene conversion contributes either to maintaining sequence homogeneity or generating sequence diversity. The role of genetic recombination, particularly gene conversion in the evolution of the human globin gene families has been discussed elsewhere.


CONCLUSIONS
Here, we summarize our current knowledge and review existing experimental evidence outlining the role of genetic recombination in the mutagenic process in the human globin gene families.
Borg
Joseph
J
Erasmus MC, Faculty of Medicine and Health Sciences, MGC-Department of Cell Biology and Genetics, Rotterdam, The Netherlands.
Georgitsi
Marianthi
M
Aleporou-Marinou
Vassiliki
V
Kollia
Panagoula
P
Patrinos
George P
GP
D001483:Base Sequence; D003434:Crossing Over, Genetic; D005785:Gene Conversion / Q000235:genetics; D005914:Globins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D005810:Multigene Family / Q000235:genetics*; D016296:Mutagenesis / Q000235:genetics*; D011995:Recombination, Genetic
D005914:Globins