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

Papadakis, Manoussos N.; Patrinos, George P.

doi:10.1007/s004390050923

Cited by 58 publications

(28 citation statements)

References 81 publications

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“…This particular event suggests non-reciprocal transfer of DNA sequences from one chromosome to another by which a mutant allele induces a normal allele to convert into a mutant allele (Shiokawa et al 1989;Starck et al 1990). The existence of a mutation on different β-globin frameworks can be explained by an event of interallelic gene conversion also (Fukumaki and Fucharoen 1991;Papadakis and Patrinos 1999). In a study among the Thai population (Ohashi et al 2004) four major haplotypes (H1-H4) were found and H1 haplotype was appeared to have arisen from the H2 haplotype by a single mutation.…”

Section: Origin and Spread Of Hemoglobin Ementioning

confidence: 99%

Hemoglobin E in Northeast India: A review on its origin, distribution, migration and health implication

Sikdar

2016

Anthropological Review

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A systematic review of the studies on hemoglobin E in Northeast India has been carried out to understand the magnitude of research undertaken on this aspect during the last seven decades. Owing to the high prevalence of hemoglobin E in this part of India different authors have studied this hemoglobin from different perspectives and found conflicting results. However a systematic review of such studies is lacking from a holistic point of view. Most of the epidemiological, in vitro as well as in vivo studies show signatures of selection with this hemoglobin locus. However, how this polymorphism is maintained at different rates at different geographical region is still a matter of contention. This review will fill the gap from all perspectives starting from the frequency distribution of hemoglobin E and its spread in different parts of Northeast India, its relationship with malaria hypothesis, the population migration, population affinity and most importantly the health implication arising out of it. A probable origin of hemoglobin E among an Austroasiatic population of Northeast India has been postulated with the help of advance molecular anthropological knowledge like the deep rooted markers of mt DNA and Y-chromosome haplotypes.

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Section: Origin and Spread Of Hemoglobin Ementioning

confidence: 99%

Hemoglobin E in Northeast India: A review on its origin, distribution, migration and health implication

Sikdar

2016

Anthropological Review

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“…Data on interparalog conversion come mainly from the occasional detection of variant or pathologically mutated genes in which an altered sequence tract can be shown to have originated in a paralogous gene copy (Collier et al 1993;Papadakis and Patrinos 1999;Ogasawara et al 2001). Rates for such processes cannot be easily deduced, but tract lengths are typically estimated as a few hundred base pairs.…”

Section: Genome Research 841mentioning

confidence: 99%

Dynamics of a Human Interparalog Gene Conversion Hotspot

Bosch¹,

Hurles²,

Navarro³

et al. 2004

Genome Res.

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Gene conversion between paralogs can alter their patterns of sequence identity, thus obscuring their evolutionary relationships and affecting their propensity to sponsor genomic rearrangements. The details of this important process are poorly understood in the human genome because allelic diversity complicates the interpretation of interparalog sequence differences. Here we exploit the haploid nature of the Y chromosome, which obviates complicating interallelic processes, together with its known phylogeny, to understand the dynamics of conversion between two directly repeated HERVs flanking the 780-kb AZFa region on Yq. Sequence analysis of a 787-bp segment of each of the HERVs in 36 Y chromosomes revealed one of the highest nucleotide diversities in the human genome, as well as evidence of a complex patchwork of highly directional gene conversion events. The rate of proximal-to-distal conversion events was estimated as 2.4 × 10-4 to 1.2 × 10-3 per generation (3.9 × 10-7 to 1.9 × 10-6 per base per generation), and the distal-to-proximal rate as about one-twentieth of this. Minimum observed conversion tract lengths ranged from 1 to 158 bp and maximum lengths from 19 to 1365 bp, with an estimated mean of 31 bp. Analysis of great ape homologs shows that conversion in this hotspot has a deep evolutionary history.

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“…Fredman et al (2004) defined a new type of polymorphismmultisite variation (MSV)-representing the sum of the signals from many individual duplicon copies that vary in sequence content because of duplication, deletion, or gene conversion, and attributed 28% of the SNPs in duplicons to MSVs. Meiotic gene conversion, favored by high sequence homology between tandem-arrayed or inverted DNA segments, leads to concerted evolution of duplicons (Hurles 2001;Bettencourt and Feder 2002) and the spread of mutations (Tusié-Luna and White 1995;Papadakis and Patrinos 1999;Boocock et al 2003). Highly similar DNA segments also favor nonallelic homologous crossing-over coupled with rearrangements, leading to genomic disorders (Stankiewicz and Lupski 2002;Shaw and Lupski 2004).…”

mentioning

confidence: 99%

Segmental duplications and gene conversion: Human luteinizing hormone/chorionic gonadotropin β gene cluster

Hallast

Nagirnaja²,

Margus³

et al. 2005

Genome Res.

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Segmental duplicons (>1 kb) of high sequence similarity (>90%) covering >5% of the human genome are characterized by complex sequence variation. Apart from a few well-characterized regions (MHC, ␤-globin), the diversity and linkage disequilibrium (LD) patterns of duplicons and the role of gene conversion in shaping them have been poorly studied. To shed light on these issues, we have re-sequenced the human Luteinizing Hormone/Chorionic Gonadotropin ␤ (LHB/CGB) cluster (19q13.32) of three population samples (Estonians, Mandenka, and Han). The LHB/CGB cluster consists of seven duplicated genes critical in human reproduction. In the LHB/CGB region, high sequence diversity, concentration of gene-conversion acceptor sites, and strong LD colocalize with peripheral genes, whereas central loci are characterized by lower variation, gene-conversion donor activity, and breakdown of LD between close markers. The data highlight an important role of gene conversion in spreading polymorphisms among duplicon copies and generating LD around them. The directionality of gene-conversion events seems to be determined by the localization of a predicted recombination "hotspot" and "warm spot" in the vicinity of the most active acceptor genes at the periphery of the cluster. The data suggest that enriched crossover activity in direct and inverted segmental repeats is in accordance with the formation of palindromic secondary structures promoting double-strand breaks rather than fixed DNA sequence motifs. Also, this first detailed coverage of sequence diversity and structure of the LHB/CGB gene cluster will pave the way for studying the identified polymorphisms as well as potential genomic rearrangements in association with an individual's reproductive success.[Supplemental material is available online at www.genome.org. The sequence data from this study have been submitted to dbSNP under accession nos. LHB ss48399882-ss48399908, CGB ss48399909-ss48399943, CGB1 ss48399944-ss48399963, CGB2 ss48399964-ss48399997, CGB5 ss48399998-ss48400022, CGB7 ss48400023-ss48400071, CGB8 ss48399818-ss48399832, CGB5-CGB8 intergenic region ss48399833-ss48399849, CGB8-CGB5 intergenic region ss48399850-ss48399881. The following individuals kindly provided reagents, samples, or unpublished information as indicated in the paper: H. Cann.]

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

Cited by 58 publications

References 81 publications

Hemoglobin E in Northeast India: A review on its origin, distribution, migration and health implication

Hemoglobin E in Northeast India: A review on its origin, distribution, migration and health implication

Dynamics of a Human Interparalog Gene Conversion Hotspot

Segmental duplications and gene conversion: Human luteinizing hormone/chorionic gonadotropin β gene cluster

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