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Title: | Genetic recombination as a major cause of mutagenesis in the human globin gene clusters |
Authors: | Borg, Joseph J. Georgitsi, Marianthi Aleporou-Marinou, Vassiliki Kollia, Panagoula Patrinos, George P. |
Keywords: | Genetic recombination Gene conversion Globin genes Thalassemia -- Diagnosis Sickle cell anemia -- Gene therapy |
Issue Date: | 2009 |
Publisher: | Elsevier Inc |
Citation: | Borg, J., Georgitsi, M., Aleporou-Marinou, V., Kollia, P., & Patrinos, G. P. (2009). Genetic recombination as a major cause of mutagenesis in the human globin gene clusters. Clinical Biochemistry, 42(18), 1839-1850. |
Abstract: | Homologous recombination is a frequent phenomenon in multigene families and as such it occurs several times in both the α- and β-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. 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. |
URI: | https://www.um.edu.mt/library/oar/handle/123456789/99310 |
Appears in Collections: | Scholarly Works - FacHScABS |
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