The ABO blood group is a trans-species polymorphism in primates

Ségurel, Laure; Thompson, Emma E.; Flutre, Timothée; Lovstad, Jessica N.; Venkat, Aarti; Margulis, Susan W.; Moyse, Jill; Ross, Steve; Gamble, Kathryn C.; Sella, Guy; Ober, Carole; Przeworski, Molly

doi:10.1073/pnas.1210603109

Cited by 138 publications

(184 citation statements)

References 57 publications

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“…Blood groups are a classic example (4). The ABO blood group results from antigenicity against different glycosylation variants, and may be maintained by frequency dependent selection since pathogens target these molecules during infection (5). Natural glycan variants can thus have important effects on fitness, and glycan biology is a ubiquitous but understudied aspect of phenotypic evolution.…”

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confidence: 99%

Parallel evolution of a self-signal: humans and new world monkeys independently lost the cell surface sugar Neu5Gc

2014

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Human sialic acid biology is unusual and thought to be unique among mammals. Humans lack a functional CMAH protein and cannot synthesize the sugar Neu5Gc, an innate mammalian signal of self. Losing this sugar changed how humans interact with some of our deadliest pathogens: malaria, influenza and streptococcus among others. We show that the New World monkeys, comprising a third of all primate species, have human-like sialic acid biology. They have lost Neu5Gc because of an independent CMAH inactivation ∼30 million years ago (compared to ∼3 mya in hominids). This parallel loss of Neu5Gc opens sialic acid biology to comparative phylogenetic analysis, and reveals an unexpected conservation priority. New World Monkeys risk infection by human pathogens that can recognize cells in the absence of Neu5Gc. This striking molecular convergence provides a mechanism that could explain the longstanding observation that New World monkeys are susceptible to some human diseases that cannot be transmitted to other primates.

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confidence: 99%

Parallel evolution of a self-signal: humans and new world monkeys independently lost the cell surface sugar Neu5Gc

2014

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“…This could be important not only for the inference of demographic histories but also for other endeavors such as the detection of long-term balancing selection. Closely spaced SNPs with ancient times to common ancestry can provide evidence that genetic diversity has been maintained by natural selection (Charlesworth 2006;S egurel et al 2012;Leffler et al 2013), and simultaneous mutations have the potential to distort or mimic these signals.…”

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confidence: 99%

Error-prone polymerase activity causes multinucleotide mutations in humans

2014

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About 2% of human genetic polymorphisms have been hypothesized to arise via multinucleotide mutations (MNMs), complex events that generate SNPs at multiple sites in a single generation. MNMs have the potential to accelerate the pace at which single genes evolve and to confound studies of demography and selection that assume all SNPs arise independently. In this paper, we examine clustered mutations that are segregating in a set of 1092 human genomes, demonstrating that the signature of MNM becomes enriched as large numbers of individuals are sampled. We estimate the percentage of linked SNP pairs that were generated by simultaneous mutation as a function of the distance between affected sites and show that MNMs exhibit a high percentage of transversions relative to transitions, findings that are reproducible in data from multiple sequencing platforms and cannot be attributed to sequencing error. Among tandem mutations that occur simultaneously at adjacent sites, we find an especially skewed distribution of ancestral and derived alleles, with GC ! AA, GA ! TT, and their reverse complements making up 27% of the total. These mutations have been previously shown to dominate the spectrum of the error-prone polymerase Pol z, suggesting that low-fidelity DNA replication by Pol z is at least partly responsible for the MNMs that are segregating in the human population. We develop statistical estimates of MNM prevalence that can be used to correct phylogenetic and population genetic inferences for the presence of complex mutations.

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“…This is consistent with the fact that the peaks of polymorphism near sites known to be under long-term balancing selection are often confined to the gene itself. For example, in the case of the primate ABO polymorphism, the diversity peak affects 5 kb in and near exon 7 (Calafell et al 2008;Ségurel et al 2012). Therefore, under the neutral null hypothesis, only PAR genes very closely linked to the nonrecombining male-specific region of the Y chromosome (MSY) should be affected (Kirkpatrick et al 2010).…”

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Testing for the Footprint of Sexually Antagonistic Polymorphisms in the Pseudoautosomal Region of a Plant Sex Chromosome Pair

Qiu¹,

Bergero²,

Charlesworth

2013

Genetics

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The existence of sexually antagonistic (SA) polymorphism is widely considered the most likely explanation for the evolution of suppressed recombination of sex chromosome pairs. This explanation is largely untested empirically, and no such polymorphisms have been identified, other than in fish, where no evidence directly implicates these genes in events causing loss of recombination. We tested for the presence of loci with SA polymorphism in the plant Silene latifolia, which is dioecious (with separate male and female individuals) and has a pair of highly heteromorphic sex chromosomes, with XY males. Suppressed recombination between much of the Y and X sex chromosomes evolved in several steps, and the results in Bergero et al. (2013) show that it is still ongoing in the recombining or pseudoautosomal, regions (PARs) of these chromosomes. We used molecular evolutionary approaches to test for the footprints of SA polymorphisms, based on sequence diversity levels in S. latifolia PAR genes identified by genetic mapping. Nucleotide diversity is high for at least four of six PAR genes identified, and our data suggest the existence of polymorphisms maintained by balancing selection in this genome region, since molecular evolutionary (HKA) tests exclude an elevated mutation rate, and other tests also suggest balancing selection. The presence of sexually antagonistic alleles at a locus or loci in the PAR is suggested by the very different X and Y chromosome allele frequencies for at least one PAR gene.

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The ABO blood group is a trans-species polymorphism in primates

Cited by 138 publications

References 57 publications

Parallel evolution of a self-signal: humans and new world monkeys independently lost the cell surface sugar Neu5Gc

Parallel evolution of a self-signal: humans and new world monkeys independently lost the cell surface sugar Neu5Gc

Error-prone polymerase activity causes multinucleotide mutations in humans

Testing for the Footprint of Sexually Antagonistic Polymorphisms in the Pseudoautosomal Region of a Plant Sex Chromosome Pair

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