Human fetal gγ- and Aγ-globin genes: Complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes

Slightom, Jerry L.; Blechl, Ann E.; Smithies, Oliver

doi:10.1016/0092-8674(80)90426-2

Cited by 924 publications

(343 citation statements)

References 43 publications

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“…The clustering of human CEA-related genes on chromosome 19 and the occurrence of simple sequences that could serve as potential recombination sites between nonhomologous genes (Slightom et al 1980;Cohen et al 1982) in the introns of several human and rat CEA-related genes (Kodelja et al 1989;Thompson et al 1989) support this assumption. Such putative recombination sites could also facilitate exon shuffling (Gilbert 1978), whereby genes varying in the number of repeated domains may have arisen (cf.…”

Section: Conservation Of Lntron Regions Among Human Cea-like Genesmentioning

confidence: 99%

Intra- and interspecies analyses of the carcinoembryonic antigen (CEA) gene family reveal independent evolution in primates and rodents

1989

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Summary. Various rodent and primate DNAsexhibit a stronger intra-than interspecies cross-hybridization with probes derived from the N-terminal domain exons of human and rat carcinoembryonic antigen (CEA)-like genes. Southern analyses also reveal that the human and rat CEA gene families are of similar complexity. We counted at least 10 different genes per human haploid genome. In the rat, approximately seven to nine different N-terminal domain exons that presumably represent different genes appear to be present. We were able to assign the corresponding genomic restriction endonuclease fragments to already isolated CEA gene family members of both human and rat. Highly similar subgroups, as found within the human CEA gene family, seem to be absent from the rat genome. Hybridization with an intron probe from the human nonspecific cross-reacting antigen (NCA) gene and analysis of DNA sequence data indicate the conservation of noncoding regions among CEA-like genes within primates, implicating that whole gene units may have been duplicated. With the help of a computer program and by calculating the rate of synonymous substitutions, evolutionary trees have been derived. From this, we propose that an independent parallel evolution, leading to different CEA gene families, must have taken place in, at least, the primate and rodent orders.

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Section: Conservation Of Lntron Regions Among Human Cea-like Genesmentioning

confidence: 99%

Intra- and interspecies analyses of the carcinoembryonic antigen (CEA) gene family reveal independent evolution in primates and rodents

1989

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“…Walsh (17) suggested that functional diversification does not occur frequently, because gene conversion homogenizes variation between duplicated genes (i.e., concerted evolution of multigene families; see refs. [18][19][20][21][22][23][24]. He considered a neutral model, in which a duplicated gene can acquire a new function when it has successfully ''escaped'' from conversion due to accumulation of neutral mutations.…”

Section: R Ecent Genomic Sequencing Projects Confirmed Earlier Studiesmentioning

confidence: 99%

A two-locus gene conversion model with selection and its application to the human RHCE and RHD genes

Innan

2003

Proc. Natl. Acad. Sci. U.S.A.

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A two-locus gene conversion model with selection is developed. Under the joint action of selection, mutation, gene conversion, recombination, and random genetic drift, approximate formulas for the expectations of the moments of allele frequencies and the expected amounts of variation within and between two loci are obtained by a diffusion method assuming relatively strong selection. It is shown that the pattern of allelic variation is mainly determined by the balance between gene conversion and selection, because these two mechanisms act in opposite directions. As an application of the theoretical results, the human RHCE and RHD genes are considered. The very high level of amino acid divergence between the two genes is observed only in a short region around exon 7. It is known that exon 7 encodes amino acids that characterize the difference between the RHCE and RHD antigens. The observed pattern of DNA variation in this region is consistent with the selection model developed in this article, suggesting that strong selection might be working to maintain the RHCE͞RHD antigen variation in the two-locus system. The selection intensity is estimated on the basis of the theoretical result.

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“…Although the current build 138 has validated 1, 87, 382 SNPs out of the 9 lakh new SNPs reported. The first SNP reported was by Slightom in 1980 in human fetal G-gamma and A-gamma genes [3]. Such polymorphism may help in understanding the association of gene with disease and drug response.…”

Section: Introductionmentioning

confidence: 99%

Relationship of Genetic Polymorphism (Intronic SNP RS2606345 of CYP1A1) and Drug Response in North Indian Epileptic Patients & Controls

Upadhyay¹,

Das²,

Mazumder³

2017

Glob J Res Rev

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Human fetal gγ- and Aγ-globin genes: Complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes

Cited by 924 publications

References 43 publications

Intra- and interspecies analyses of the carcinoembryonic antigen (CEA) gene family reveal independent evolution in primates and rodents

Intra- and interspecies analyses of the carcinoembryonic antigen (CEA) gene family reveal independent evolution in primates and rodents

A two-locus gene conversion model with selection and its application to the human RHCE and RHD genes

Relationship of Genetic Polymorphism (Intronic SNP RS2606345 of CYP1A1) and Drug Response in North Indian Epileptic Patients & Controls

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