Literature DB >> 19631200

Genetic recombination as a major cause of mutagenesis in the human globin gene clusters.

Joseph Borg1, Marianthi Georgitsi, Vassiliki Aleporou-Marinou, Panagoula Kollia, George P Patrinos.   

Abstract

OBJECTIVES: 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.
CONCLUSION: 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.

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Year:  2009        PMID: 19631200     DOI: 10.1016/j.clinbiochem.2009.07.014

Source DB:  PubMed          Journal:  Clin Biochem        ISSN: 0009-9120            Impact factor:   3.281


  7 in total

1.  Altitudinal variation at duplicated β-globin genes in deer mice: effects of selection, recombination, and gene conversion.

Authors:  Jay F Storz; Chandrasekhar Natarajan; Zachary A Cheviron; Federico G Hoffmann; John K Kelly
Journal:  Genetics       Date:  2011-10-31       Impact factor: 4.562

2.  Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.

Authors:  Belinda Giardine; Joseph Borg; Douglas R Higgs; Kenneth R Peterson; Sjaak Philipsen; Donna Maglott; Belinda K Singleton; David J Anstee; A Nazli Basak; Barnaby Clark; Flavia C Costa; Paula Faustino; Halyna Fedosyuk; Alex E Felice; Alain Francina; Renzo Galanello; Monica V E Gallivan; Marianthi Georgitsi; Richard J Gibbons; Piero C Giordano; Cornelis L Harteveld; James D Hoyer; Martin Jarvis; Philippe Joly; Emmanuel Kanavakis; Panagoula Kollia; Stephan Menzel; Webb Miller; Kamran Moradkhani; John Old; Adamantia Papachatzopoulou; Manoussos N Papadakis; Petros Papadopoulos; Sonja Pavlovic; Lucia Perseu; Milena Radmilovic; Cathy Riemer; Stefania Satta; Iris Schrijver; Maja Stojiljkovic; Swee Lay Thein; Jan Traeger-Synodinos; Ray Tully; Takahito Wada; John S Waye; Claudia Wiemann; Branka Zukic; David H K Chui; Henri Wajcman; Ross C Hardison; George P Patrinos
Journal:  Nat Genet       Date:  2011-03-20       Impact factor: 38.330

Review 3.  Beta-globin gene haplotypes among cameroonians and review of the global distribution: is there a case for a single sickle mutation origin in Africa?

Authors:  Valentina J Ngo Bitoungui; Gift D Pule; Neil Hanchard; Jeanne Ngogang; Ambroise Wonkam
Journal:  OMICS       Date:  2015-03

4.  Interaction-based evolution: how natural selection and nonrandom mutation work together.

Authors:  Adi Livnat
Journal:  Biol Direct       Date:  2013-10-18       Impact factor: 4.540

5.  Prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil.

Authors:  Gustavo Henrique de Medeiros Alcoforado; Christiane Medeiros Bezerra; Telma Maria Araújo Moura Lemos; Denise Madureira de Oliveira; Elza Miyuki Kimura; Fernando Ferreira Costa; Maria de Fátima Sonati; Tereza Maria Dantas de Medeiros
Journal:  Genet Mol Biol       Date:  2012-07-26       Impact factor: 1.771

6.  Evolutionary constraints in the β-globin cluster: the signature of purifying selection at the δ-globin (HBD) locus and its role in developmental gene regulation.

Authors:  Ana Moleirinho; Susana Seixas; Alexandra M Lopes; Celeste Bento; Maria J Prata; António Amorim
Journal:  Genome Biol Evol       Date:  2013       Impact factor: 3.416

7.  Nonsynonymous amino acid changes in the α-chain of complement component 5 influence longitudinal susceptibility to Plasmodium falciparum infections and severe malarial anemia in kenyan children.

Authors:  Evans Raballah; Kristen Wilding; Samuel B Anyona; Elly O Munde; Ivy Hurwitz; Clinton O Onyango; Cyrus Ayieko; Christophe G Lambert; Kristan A Schneider; Philip D Seidenberg; Collins Ouma; Benjamin H McMahon; Qiuying Cheng; Douglas J Perkins
Journal:  Front Genet       Date:  2022-09-14       Impact factor: 4.772

  7 in total

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