ArticleGenetics2006
Fixation of the human-specific CMP-N-acetylneuraminic acid hydroxylase pseudogene and implications of haplotype diversity for human evolution.
Article in Genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed.
- Uncloaking the viral glycocalyx: How do viruses exploit glycoimmune checkpoints?Advances in virus research · 2024Review
- Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution.Nature reviews. Genetics · 2023Review
- Heterophile carbohydrate antigen N-glycolylneuraminic acid as a potential biomarker in patients with hepatocellular carcinoma.Cancer reports (Hoboken, N.J.) · 2023Article
- Comparative physiological anthropogeny: exploring molecular underpinnings of distinctly human phenotypes.Physiological reviews · 2023Review
- Evolutionary constraint and innovation across hundreds of placental mammals.Science (New York, N.Y.) · 2023Article
- Article
- Red Blood Cells Oligosaccharides as Targets for Plasmodium Invasion.Biomolecules · 2022Review
- N-glycolylated carbohydrates in nature.Glycobiology · 2022Review
- Lipoprotein sialylation in atherosclerosis: Lessons from mice.Frontiers in endocrinology · 2022Review
- Sialic Acids as Receptors for Pathogens.Biomolecules · 2021Review
- Multiple Genomic Events Altering Hominin SIGLEC Biology and Innate Immunity Predated the Common Ancestor of Humans and Archaic Hominins.Genome biology and evolution · 2020Article
- Human species-specific loss of CMP-Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Article
- Human-like Cmah inactivation in mice increases running endurance and decreases muscle fatigability: implications for human evolution.Proceedings. Biological sciences · 2018Article
- Phylogenetic Distribution of CMP-Neu5Ac Hydroxylase (CMAH), the Enzyme Synthetizing the Proinflammatory Human Xenoantigen Neu5Gc.Genome biology and evolution · 2018Article
- Article
- Human risk of diseases associated with red meat intake: Analysis of current theories and proposed role for metabolic incorporation of a non-human sialic acid.Molecular aspects of medicine · 2016Review
- Ancient human sialic acid variant restricts an emerging zoonotic malaria parasite.Nature communications · 2016Article
- The Chemical Biology of Human Metallo-β-Lactamase Fold Proteins.Trends in biochemical sciences · 2016Review
- Model-based analyses of whole-genome data reveal a complex evolutionary history involving archaic introgression in Central African Pygmies.Genome research · 2016Article
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Authors and funding
5 authors.
Funding
Abstract
The human CMP-N-acetylneuraminic acid hydroxylase gene (CMAH) suffered deletion of an exon that encodes an active center for the enzyme approximately 3.2 million years ago (MYA). We analyzed a 7.3-kb intronic region of 132 CMAH genes to explore the fixation process of this pseudogene and the demographic implication of its haplotype diversity. Fifty-six variable sites were sorted into 18 different haplotypes with significant linkage disequilibrium. Despite the rather low nucleotide diversity, the most recent common ancestor at CMAH dates to 2.9 MYA. This deep genealogy follows shortly after the original exon deletion, indicating that the deletion has fixed in the population, although whether this fixation was facilitated by natural selection remains to be resolved. Remarkable features are exceptionally long persistence of two lineages and the confinement of one lineage in Africa, implying that some African local populations were in relative isolation while others were directly involved in multiple African exoduses of the genus Homo. Importantly, haplotypes found in Eurasia suggest interbreeding between then-contemporaneous human species. Although population structure within Africa complicates the interpretation of phylogeographic information of haplotypes, the data support a single origin of modern humans, but not with complete replacement of archaic inhabitants by modern humans.
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