Glycophorin B and glycophorin E genes arose from the glycophorin A ancestral gene via two duplications during primate evolution.

Rearden, Ann; Magnet, A; Kudo, Shinichi; Fukuda, Minoru

doi:10.1016/s0021-9258(18)53991-0

Cited by 42 publications

(5 citation statements)

References 28 publications

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“…Although the A-B-E genomic structure has been confirmed in gorillas (Xie et al 1997), we have observed a gorilla with a total of four glycophorin genes using fibre-FISH, though we were unable to determine whether the extra glycophorin gene was GYPA, GYPB or GYPE (Louzada, Hollox and Yang unpublished). It is known that GYPE is polymorphic in copy number in gorillas, being completely absent in 9/16 individuals (~ 56%) (Rearden et al 1993), so the extra gene we observe is likely to be GYPE. In an early chimpanzee reference genome (panTro2), three GYPE genes were annotated (Ko et al 2011), and this arrangement confirmed using fibre-FISH (Fig.…”

Section: Structural Variation Of Glycophorin Genesmentioning

confidence: 70%

“…Primates, and other mammals, have a single GYPA gene, with the exception of bonobos, chimpanzees, gorillas and humans, which all have three related genes ( GYPA , GYPB and GYPE ) (Rearden et al 1993 ), sharing about 97% identity. These three genes were generated by two duplication events after divergence of orangutans but before divergence of gorillas from the human lineage (about 10–15 MYA) (Fig.…”

Section: Evolution Of Glycophorin Genes In Primatesmentioning

confidence: 99%

“…These three genes were generated by two duplication events after divergence of orangutans but before divergence of gorillas from the human lineage (about 10–15 MYA) (Fig. 2 a; Kudo and Fukuda 1990 ; Rearden et al 1993 ). There is no evidence for duplication of GYPC , as all primates have a single GYPC gene (Wilder et al 2009 ).…”

Section: Evolution Of Glycophorin Genes In Primatesmentioning

confidence: 99%

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Genetic variation of glycophorins and infectious disease

Hollox

Louzada

2022

Immunogenetics

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Glycophorins are transmembrane proteins of red blood cells (RBCs), heavily glycosylated on their external-facing surface. In humans, there are four glycophorin proteins, glycophorins A, B, C and D. Glycophorins A and B are encoded by two similar genes GYPA and GYPB, and glycophorin C and glycophorin D are encoded by a single gene, GYPC. The exact function of glycophorins remains unclear. However, given their abundance on the surface of RBCs, it is likely that they serve as a substrate for glycosylation, giving the RBC a negatively charged, complex glycan “coat”. GYPB and GYPE (a closely related pseudogene) were generated from GYPA by two duplication events involving a 120-kb genomic segment between 10 and 15 million years ago. Non-allelic homologous recombination between these 120-kb repeats generates a variety of duplication alleles and deletion alleles, which have been systematically catalogued from genomic sequence data. One allele, called DUP4, encodes the Dantu NE blood type and is strongly protective against malaria as it alters the surface tension of the RBC membrane. Glycophorins interact with other infectious pathogens, including viruses, as well as the malarial parasite Plasmodium falciparum, but the role of glycophorin variation in mediating the effects of these pathogens remains underexplored.

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Section: Structural Variation Of Glycophorin Genesmentioning

confidence: 70%

Section: Evolution Of Glycophorin Genes In Primatesmentioning

confidence: 99%

Section: Evolution Of Glycophorin Genes In Primatesmentioning

confidence: 99%

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Genetic variation of glycophorins and infectious disease

Hollox

Louzada

2022

Immunogenetics

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“…Long terminal repeats, which are among the most polymorphic and diverse regions of the human genome (136), contribute to tissue-specific gene regulation in mammals and undergo recombination to contribute to genome evolution (31). The human glycophorin gene family arose from homologous recombination within Alu elements (118), and retroelements have played a major role in duplication and insertion/deletion events that led to the present organization of the human major histocompatibility complex class I region (82). Domestication of retroviral genes in mammals has played a role in the development of antiviral mechanisms (156) and the evolution of the placenta (31).…”

Section: Dux4 As Part Of the Repeat Genomementioning

confidence: 99%

The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy

Himeda

Jones

2019

Annu. Rev. Genom. Hum. Genet.

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Facioscapulohumeral muscular dystrophy (FSHD), a progressive myopathy that afflicts individuals of all ages, provides a powerful model of the complex interplay between genetic and epigenetic mechanisms of chromatin regulation. FSHD is caused by dysregulation of a macrosatellite repeat, either by contraction of the repeat or by mutations in silencing proteins. Both cases lead to chromatin relaxation and, in the context of a permissive allele, aberrant expression of the DUX4 gene in skeletal muscle. DUX4 is a pioneer transcription factor that activates a program of gene expression during early human development, after which its expression is silenced in most somatic cells. When misexpressed in FSHD skeletal muscle, the DUX4 program leads to accumulated muscle pathology. Epigenetic regulators of the disease locus represent particularly attractive therapeutic targets for FSHD, as many are not global modifiers of the genome, and altering their expression or activity should allow correction of the underlying defect.

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“…SINEs affect the eukaryote genome at diverse levels such as causing expansion, insertional mutations at genes -coulding be exonized-and their flanking regions, unequal crossing over mediated deletions/duplications -fostering the emergence of novel genes-, and gene silencing mediated large scale heterochromatinization [7,[15][16][17][18]. SINEs can regulate gene activity as enhancers/silencers of contiguous genes, by sequestering pol-II transcription factors via their hairpin structure, or by affecting alternative splicing patterns [19][20][21].…”

Section: Introductionmentioning

confidence: 99%

Au Family Short Retroposons Contribute to Transcriptional and Phenotypic Diversity in Tomato (Solanaceae)

Grabiele

Aguilera

2022

Braz. arch. biol. technol.

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Here we report the current gene impact of the Au family of SINEs in tomato. The genome of Solanum lycopersicum 'Heinz 1706' SL3.0 -NCBI annotation release 103-was reference searched and the Au profile was characterized in-depth. Tomato genome comprises ca. 670 Au copies, of entire length -18.5%or truncated, randomly inserted and eroded, forming three well supported (>80%) super clusters which disperse along the 12 chromosomes mirroring the subtelomeric gene distribution bias of the species. In tomato, the Au clade is largely localized at protein coding genes -69.5% introns, 7.8% 3UTRs, 2.1% 5UTRs, 1.2% CDSs-followed by genomic copies -18.3%-, long non coding RNA genes -1.4%-and pseudogenes -0.8%-. The 419 tomato genes harboring intronic Au are diverse, weakly associated considering biological processes and molecular functions, but include important traits such as stress response, hormone response or phenotype plasticity. Au was found to be transcribed inside circular RNAs derived from 12 genic loci. Exonic Au affect the transcriptional and/or translational profiles of 67 tomato genes, including biological/agronomical important ones, contributing to UTR length and composition, UTR transcript variants, CDS boundary definitions, protein domains and variants. We propose that biased survival of Au in tomato genes is an adaptive feature.

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Glycophorin B and glycophorin E genes arose from the glycophorin A ancestral gene via two duplications during primate evolution.

Cited by 42 publications

References 28 publications

Genetic variation of glycophorins and infectious disease

Genetic variation of glycophorins and infectious disease

The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy

Au Family Short Retroposons Contribute to Transcriptional and Phenotypic Diversity in Tomato (Solanaceae)

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