Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/99310
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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