Genetic recombination as a major cause of mutagenesis in the human globin gene clusters |
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| Authors: | Joseph Borg Marianthi Georgitsi Vassiliki Aleporou-Marinou Panagoula Kollia George P Patrinos |
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| Institution: | 1. Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China;2. BGI-Shenzhen, Bei Shan Industrial Zone, Yantian District, Shenzhen, Guangdong, China;3. Department of Hematology, 303rd Hospital of the People''s Liberation Army, Nanning, Guangxi, China;4. The Second Department of Pediatrics, Affiliated Hospital of Zunyi Medical College, Zunyi, Guizhou, China;5. Genetic Diagnosis Center, First People''s Hospital of Yunnan Province, Medical School of Kunming University of Science and Technology, Kunming, Yunnan, China;6. Department of Biochemistry and Molecular Biology, Hainan Medical College, Haikou, Hainan, China;7. Department of Genetic and Metabolic Laboratory, Guangxi Zhuang Autonomous Region Women and Children Health Care Hospital, Nanning, Guangxi, China;8. Department of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, China;9. Maternity and Child Health Care Hospital of Foshan City, Foshan, Guangdong, China;10. Guilin Women and Children health care hospital, Guilin, Guangxi, China;11. Department of Clinical Laboratory, Zhuhai Municipal Maternal and Child Healthcare Hospital, Zhuhai Institute of Medical Genetics, Zhuhai, Guangdong, China;12. Maternal and Child Health Hospital in Meizhou, Meizhou, Guangdong, China;13. Department of Prenatal Diagnosis Center, Dong Guan Maternal and Child Health Hospital, Dongguan, Guangdong, China;14. Baise Women and Children Care Hospital, Baise, Guangxi, China;15. Genetic Laboratory, Qinzhou Maternaland Child Health Hospital, Qingzhou, Guangxi, China;p. Women and Children''s Health Hospital of Shaoguan, Shaoguan, Guangdong, China;q. Department of Gynecology and Obstetrics, The People''s Hospital of Yunfu City, Yunfu, Guangdong, China;r. Pingguo Women and Children Care Hospital, Baise, Guangxi, China;s. Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin, China;t. Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, Tianjin, China;u. BGI Clinical Laboratories-Shenzhen, BGI-Shenzhen, Shenzhen, China;v. Department of Paediatric, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia;w. School of Basic Medical Sciences, Zhejiang University, Hangzhou, Zhejiang, China;x. Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA;y. James D. Watson Institute of Genome Sciences, Hangzhou, Zhejiang, China;z. Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China;11. Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China;12. Center for Genetic & Genomic Medicine, Zhejiang University Medical School 1st Affiliated Hospital, James Watson Institute of Genome Sciences, Hangzhou, Zhejiang, China;1. Division of Endocrinology and Research Center, CHU Sainte-Justine, Montréal, Québec, Canada;2. Centre de Santé et de Services Sociaux de Chicoutimi, Chicoutimi, Québec, Canada;3. Division of Medical Genetics and Research Center, CHU Sainte-Justine, Montréal, Québec, Canada;4. Department of Pediatrics, Université de Montréal, Montréal, Québec, Canada |
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| Abstract: | ObjectivesHomologous 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.ConclusionHere, 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. |
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