Natural selection and the molecular basis of electrophoretic variation at the coagulation F13B locus

Ryan, Anthony W.; Hughes, David A.; Tang, Kun; Kelleher, Dermot; Ryan, Thomas M.; McManus, Ross; Stoneking, Mark

doi:10.1038/ejhg.2008.137

Cited by 20 publications

(15 citation statements)

References 43 publications

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“…For the F13B SNP, rs6003, the minor (95Arg) allele had a higher frequency compared to the wild type (95His) allele in white populations, which is in agreement with previous research in Nigerians (Ryan et al , ).…”

Section: Discussionsupporting

confidence: 91%

Genetic polymorphisms influencing total and γ′ fibrinogen levels and fibrin clot properties in Africans

et al. 2014

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SummaryInter-ethnic variation in fibrinogen levels is hypothesized to be the result of differences in genetic background. No information is available regarding the contribution of genetics to fibrinogen c 0 in Africans. Only limited information is available regarding the interaction between genotypes and total and c 0 fibrinogen concentration in determining fibrin clot properties.Our aim was to investigate the effect of polymorphisms in the fibrinogen and Factor XIII genes on total and c 0 fibrinogen and clot properties (turbidimetry) in 2010 black Africans as well as to determine their interactions. Significant associations were observed between rs1049636 (FGG gene), with total fibrinogen levels and between rs2070011 (FGA promoter area) and fibrinogen c 0 levels. Significant associations were observed between single nucleotide polymorphisms (SNPs) in the FGA (rs2070011), FGB (rs1800787) and FGG (rs1049636) genes and fibre size. Significant interactions were found between total and/or c 0 fibrinogen levels and SNPs in the FGA (rs2070011), FGB (rs2227385, rs1800787, rs1800788, rs4220) and F13A1 genes (rs5985) in determining clot properties. The different SNPs influenced the relationships between total and c 0 fibrinogen levels with clot properties in opposing directions. Genetic influences may be ethnic-specific and should not only focus on fibrinogen concentration, but also on functionality in determining its role in CVD.

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Section: Discussionsupporting

confidence: 91%

Genetic polymorphisms influencing total and γ′ fibrinogen levels and fibrin clot properties in Africans

et al. 2014

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“…For this allele, a C‐to‐G nucleotide change was identified in intron‐K (A+144G), the same variation as very recently described independently by Ryan et al. [22]. Iwata et al.…”

supporting

confidence: 70%

“…The crux of the study centers on the characterization of the FXIII-B*3 allele. For this allele, a C-to-G nucleotide change was identified in intron-K (A+144G), the same variation as very recently described independently by Ryan et al [22]. Iwata et al found that this nucleotide change activates a cryptic, efficient splicing acceptor site in intron-K, resulting in an allele-specific alternative splicing event downstream of exon XI [1].…”

mentioning

confidence: 64%

Allele‐specific alternative splicing; the tail of FXIII‐B tells its own tale

Willige

Philippou

Ariëns

2009

Journal of Thrombosis and Haemostasis

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“…The functional annotations of genes identified in large-scale scans (e.g., 68) flag many as potentially of significance in disease resistance or dietary adaptations. As the vast task of identifying the functions of many genes proceeds, we anticipate many similar cases to emerge (112)(113)(114).…”

Section: Current Evidence and Problems To Solvementioning

confidence: 99%

Gene-culture coevolution in the age of genomics

Richerson

Boyd

Henrich

2010

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

299

199

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The use of socially learned information (culture) is central to human adaptations. We investigate the hypothesis that the process of cultural evolution has played an active, leading role in the evolution of genes. Culture normally evolves more rapidly than genes, creating novel environments that expose genes to new selective pressures. Many human genes that have been shown to be under recent or current selection are changing as a result of new environments created by cultural innovations. Some changed in response to the development of agricultural subsistence systems in the Early and Middle Holocene. Alleles coding for adaptations to diets rich in plant starch (e.g., amylase copy number) and to epidemic diseases evolved as human populations expanded (e.g., sickle cell and G6PD deficiency alleles that provide protection against malaria). Large-scale scans using patterns of linkage disequilibrium to detect recent selection suggest that many more genes evolved in response to agriculture. Genetic change in response to the novel social environment of contemporary modern societies is also likely to be occurring. The functional effects of most of the alleles under selection during the last 10,000 years are currently unknown. Also unknown is the role of paleoenvironmental change in regulating the tempo of hominin evolution. Although the full extent of culture-driven gene-culture coevolution is thus far unknown for the deeper history of the human lineage, theory and some evidence suggest that such effects were profound. Genomic methods promise to have a major impact on our understanding of gene-culture coevolution over the span of hominin evolutionary history.T he human cultural system supports the cumulative evolution of complex adaptations to local, often ephemeral environments. Using elaborate technology and depending on large bodies of cultural knowledge about plants and animals, stone-age foragers spread to a much wider range of habitats than any other mammal, from the frigid tundra in the Arctic to the arid deserts of Australia. The Polynesian outrigger canoe and the Arctic kayak are examples of the astoundingly sophisticated cultural adaptations that people have used to occupy distant corners of the globe. The forms of social organizations observed in humans are more diverse than the rest of the primate order combined. Humans constitute one of the world's most impressive adaptive radiations. We have occupied virtually every habitat on earth by using technology and social organization to generate thousands of socioeconomic systems (1, 2). Cultural Evolution and Gene-Culture CoevolutionCulture has many definitions, but for our purposes a useful one is all of the information that individuals acquire from others by a variety of social learning processes including teaching and imitation (3). Transmission fidelity is often sufficiently high for culture to act as an inheritance system (4). We commonly observe that the ideas, practices, skills, attitudes, norms, art styles, technology, ways of speaking, and other elements...

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Natural selection and the molecular basis of electrophoretic variation at the coagulation F13B locus

Cited by 20 publications

References 43 publications

Genetic polymorphisms influencing total and γ′ fibrinogen levels and fibrin clot properties in Africans

Genetic polymorphisms influencing total and γ′ fibrinogen levels and fibrin clot properties in Africans

Allele‐specific alternative splicing; the tail of FXIII‐B tells its own tale

Gene-culture coevolution in the age of genomics

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