Contribution of gene conversion in the evolution of the human β-like globin gene family

Abstract Gene conversion is referred to as one of two types of mechanisms known to act on gene families, mainly to maintain their sequence homogeneity or, in certain cases, to produce sequence diversity. The concept of gene conversion was established 20 years ago by researchers working with fungi. A few years later, gene conversion was also observed in the human genome, i.e. the γ-globin locus. The aim of this article is to emphasize the role of genetic recombination, particularly of gene conversion, in the evolution of the human β-like globin genes and further to summarize its contribution to the convergent evolution of the fetal globin genes. Finally, this article attempts to re-examine the origin and spread of specific mutations of the β-globin cluster, such as the sickle cell or β-thalassemia mutations, on the basis of repeated gene conversion events.

[1]  T. Huisman,et al.  The Georgia type of nondeletional hereditary persistence of fetal hemoglobin has a C---T mutation at nucleotide-114 of the A gamma-globin gene. , 1991, Blood.

[2]  M. Goodman,et al.  Fetal recruitment of anthropoid γ-globin genes: Findings from phylogenetic analyses involving the 5′-flanking sequences of the ψγ1 globin gene of spider monkey Ateles geoffroyi , 1992 .

[3]  P. Ferranti,et al.  Hb F-Sassari: A Novel Gγ Variant with a Threonine Residue at Position γ75, Characterized by Mass Spectrometry Techniques , 1994 .

[4]  D. Labie,et al.  Structural analysis of the 5' flanking region of the beta-globin gene in African sickle cell anemia patients: further evidence for three origins of the sickle cell mutation in Africa. , 1988, Proceedings of the National Academy of Sciences of the United States of America.

[5]  D. Baltimore Gene conversion: Some implications for immunoglobulin genes , 1981, Cell.

[6]  Y. Fei,et al.  Hb F-Charlotte, an Aγ Variant with a Threonine Residue in Position γ75 and a Glycine Residue in Position γ136 , 1990 .

[7]  Y. Kan,et al.  Different rates of mRNA translation balance the expression of the two human alpha-globin loci. , 1982, The Journal of biological chemistry.

[8]  S. Orkin,et al.  Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations in Mediterraneans , 1984, Nature.

[9]  Robert D. Wells,et al.  Left-handed Z-DNA is induced by supercoiling in physiological ionic conditions , 1982, Nature.

[10]  C. Hutchison,et al.  Evolution of the mammalian β-globin gene cluster , 1984 .

[11]  M. Tassabehji,et al.  A de novo pathological point mutation at the 21–hydroxylase locus: implications for gene conversion in the human genome , 1993, Nature Genetics.

[12]  T. Huisman,et al.  Sequence variations in the 5' hypersensitive site-2 of the locus control region of beta S chromosomes are associated with different levels of fetal globin in hemoglobin S homozygotes. , 1992, Blood.

[13]  Y. Yamashiro,et al.  Characterization of β-thalassemia mutations among the Japanese , 1989 .

[14]  P. Powers,et al.  Short gene conversions in the human fetal globin gene region: a by-product of chromosome pairing during meiosis? , 1986, Genetics.

[15]  T. Huisman,et al.  Hemoglobin Kenya, the product of fusion of amd polypeptide chains. , 1972, Archives of biochemistry and biophysics.

[16]  N. Maeda,et al.  The evolution of multigene families: human haptoglobin genes. , 1986, Annual review of genetics.

[17]  T. Huisman,et al.  Sequence variations in the 5' flanking and IVS-II regions of the G gamma- and A gamma-globin genes of beta S chromosomes with five different haplotypes. , 1991, Blood.

[18]  A. Jeffreys DNA sequence variants in the G γ-, A γ-, δ- and β-globin genes of man , 1979, Cell.

[19]  S. Antonarakis,et al.  Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. , 1984, Proceedings of the National Academy of Sciences of the United States of America.

[20]  D J Weatherall,et al.  The thalassemia syndromes. , 2016, Texas reports on biology and medicine.

[21]  T A Gray,et al.  Phylogenetic footprinting reveals a nuclear protein which binds to silencer sequences in the human gamma and epsilon globin genes , 1992, Molecular and cellular biology.

[22]  G. Patrinos,et al.  HbF-Lesvos: an HbF variant due to a novel G gamma mutation (:G gamma 75 ATA-->ACA) detected in a Greek family. , 1996, Human genetics.

[23]  S. Fullerton,et al.  Molecular and population genetic analysis of allelic sequence diversity at the human beta-globin locus. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[24]  E. Kmiec,et al.  Targeted gene conversion in a mammalian CD34+-enriched cell population using a chimeric RNA/DNA oligonucleotide , 1997, Journal of Molecular Medicine.

[25]  N. Saitou,et al.  Concerted evolution of the primate immunoglobulin alpha-gene through gene conversion. , 1992, The Journal of biological chemistry.

[26]  A. Bradley,et al.  Gene conversion during vector insertion in embryonic stem cells. , 1995, Nucleic acids research.

[27]  N. Maeda,et al.  Duplication within the haptoglobin Hp2 gene , 1984, Nature.

[28]  F. Collins,et al.  Nuclear proteins that bind the human gamma-globin gene promoter: alterations in binding produced by point mutations associated with hereditary persistence of fetal hemoglobin , 1988, Molecular and cellular biology.

[29]  G. Patrinos,et al.  The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [Aγ–158C→T] results from two independent gene conversion events , 1998, Human Genetics.

[30]  F. Kutlar,et al.  γ‐Globin gene triplication and quadruplication in Japanese newborns , 1985 .

[31]  A. Wilson,et al.  Rise and fall of the delta globin gene. , 1983, Journal of molecular biology.

[32]  E. Rappaport,et al.  Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome. , 1984, Science.

[33]  J. B. Walsh,et al.  Sequence-dependent gene conversion: can duplicated genes diverge fast enough to escape conversion? , 1987, Genetics.

[34]  M. Goodman,et al.  Reduction of two functional gamma-globin genes to one: an evolutionary trend in New World monkeys (infraorder Platyrrhini). , 1996, Proceedings of the National Academy of Sciences of the United States of America.

[35]  F. Vogel,et al.  Human Genetics: Problems and Approaches , 1979 .

[36]  E. Vanin,et al.  Processed pseudogenes: characteristics and evolution. , 1985, Annual review of genetics.

[37]  J. Slightom,et al.  A history of the human fetal globin gene duplication , 1981, Cell.

[38]  D. Labie,et al.  A gene conversion located 5' to the A gamma gene in linkage disequilibrium with the Bantu haplotype in sickle cell anemia. , 1989, The Journal of clinical investigation.

[39]  Jerry,et al.  Tarsius 6-and @-Globin Genes : Conversions , Evolution , and Systematic Implications * , 2022 .

[40]  Y. Kan,et al.  Multiple mutations produce delta beta 0 thalassemia in Sardinia. , 1984, Science.

[41]  A. Hill,et al.  Recombination within the human embryonic ζ-globin locus: A common ζ-ζ chromosome produced by gene conversion of the ψζ gene , 1985, Cell.

[42]  D. Labie,et al.  Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. , 1984, Proceedings of the National Academy of Sciences of the United States of America.

[43]  A. Kulozik,et al.  Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation. , 1986, American journal of human genetics.

[44]  A. Michelson,et al.  Boundaries of gene conversion within the duplicated human alpha-globin genes. Concerted evolution by segmental recombination. , 1983, The Journal of biological chemistry.

[45]  T. Huisman,et al.  The GγT Chain (Gγ75 Thr; 136 Gly) In Hb F-Charlotte Is The Product Of An Aγ Gene With A Limited Gene Conversion And That In Hb F-Waynesboro Of A Mutated Gγ Gene , 2009 .

[46]  S. Fucharoen,et al.  A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression. , 1990, Nucleic acids research.

[47]  S. Orkin,et al.  The mutation and polymorphism of the human beta-globin gene and its surrounding DNA. , 1984, Annual review of genetics.

[48]  Y. Kan,et al.  The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population. , 1987, Proceedings of the National Academy of Sciences of the United States of America.

[49]  U. Krawinkel,et al.  Palindromic sequences are associated with sites of DNA breakage during gene conversion. , 1986, Nucleic acids research.

[50]  Ann E. Blechl,et al.  Human fetal g γ- and A γ-globin genes: Complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes , 1980, Cell.

[51]  G. Masera,et al.  Globin gene deletion in HPFH, δ°β° thalassaemia and Hb Lepore disease , 1979, Nature.

[52]  J. Flanagan,et al.  Mechanisms of divergence and convergence of the human immunoglobulin α1 and α2 constant region gene sequences , 1984, Cell.

[53]  A. Dimovski,et al.  The -158 (C-->T) promoter mutation is responsible for the increased transcription of the 3' gamma gene in the Atlanta type of hereditary persistence of fetal hemoglobin. , 1994, Blood.

[54]  J. Adams,et al.  Hemoglobin A , : Origin , Evolution , and Aftermath , 2022 .

[55]  M. Goodman,et al.  Molecular history of gene conversions in the primate fetal gamma-globin genes. Nucleotide sequences from the common gibbon, Hylobates lar. , 1990, The Journal of biological chemistry.

[56]  C. Radding Genetic recombination: strand transfer and mismatch repair. , 1978, Annual review of biochemistry.

[57]  F. Segal,et al.  A CHARACTERIZATION OF FIBRANT SEGAL CATEGORIES , 2006, math/0603400.

[58]  M. Rice,et al.  Correction of the Mutation Responsible for Sickle Cell Anemia by an RNA-DNA Oligonucleotide , 1996, Science.

[59]  W. T. Morrison,et al.  Hemoglobin Parchman: double crossover within a single human gene. , 1982, Science.

[60]  M. Goodman,et al.  Dynamics of regulatory evolution in primate β-globin gene clusters: cis- mediated aquisition of simian γ fetal expression patterns , 1997 .

[61]  Jerry L. Slightom,et al.  Base substitutions, length differences and DNA strand asymmetries in the human G γ and A γ fetal globin gene region , 1981, Cell.

[62]  Gerald R. Smith Chi hotspots of generalized recombination , 1983, Cell.

[63]  F. Collins,et al.  Human fetal globin DNA sequences suggest novel conversion event. , 1984, Nucleic acids research.

[64]  T. Petes,et al.  Intrachromosomal gene conversion in yeast , 1981, Nature.

[65]  H. Ostrer,et al.  Evidence for multiple origins of the beta E-globin gene in Southeast Asia. , 1982, Proceedings of the National Academy of Sciences of the United States of America.

[66]  Gerald R. Fink,et al.  Gene conversion between repeated genes , 1982, Nature.

[67]  C. Stolle,et al.  Sequence analysis of the gamma-globin gene locus from a patient with the deletion form of hereditary persistence of fetal hemoglobin. , 1990, Blood.

[68]  M. Goodman,et al.  Duplication of the gamma-globin gene mediated by L1 long interspersed repetitive elements in an early ancestor of simian primates. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[69]  E. L. Simons,et al.  Tarsius delta- and beta-globin genes: conversions, evolution, and systematic implications. , 1989, The Journal of biological chemistry.

[70]  J. Flanagan,et al.  Mechanisms of divergence and convergence of the human immunoglobulin alpha 1 and alpha 2 constant region gene sequences. , 1984, Cell.

[71]  P. Powers,et al.  Two novel arrangements of the human fetal globin genes: Gγ-Gγ and Aγ-Aγ , 1984 .

[72]  T. Huisman,et al.  Sequence variations in the 5' flanking and IVS-II regions of the G gamma- and A gamma-globin genes of beta S chromosomes with five different haplotypes , 1991 .

[73]  Y. Beuzard,et al.  A potential regulatory region for the expression of fetal hemoglobin in sickle cell disease. , 1994, Blood.

[74]  R. Wells,et al.  Intervening sequences in human fetal globin genes adopt left-handed Z helices. , 1984, The Journal of biological chemistry.

[75]  Y. Kan,et al.  Molecular basis of beta thalassemia in south China. Strategy for DNA analysis. , 1988, Human genetics.