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Colloquium paper: uniquely human evolution of sialic acid genetics and biology


, : Colloquium paper: uniquely human evolution of sialic acid genetics and biology. Proceedings of the National Academy of Sciences of the United States of America 107 Suppl 2: 8939-8946

Darwinian evolution of humans from our common ancestors with nonhuman primates involved many gene-environment interactions at the population level, and the resulting human-specific genetic changes must contribute to the "Human Condition." Recent data indicate that the biology of sialic acids (which directly involves less than 60 genes) shows more than 10 uniquely human genetic changes in comparison with our closest evolutionary relatives. Known outcomes are tissue-specific changes in abundant cell-surface glycans, changes in specificity and/or expression of multiple proteins that recognize these glycans, and novel pathogen regimes. Specific events include Alu-mediated inactivation of the CMAH gene, resulting in loss of synthesis of the Sia N-glycolylneuraminic acid (Neu5Gc) and increase in expression of the precursor N-acetylneuraminic acid (Neu5Ac); increased expression of alpha2-6-linked Sias (likely because of changed expression of ST6GALI); and multiple changes in SIGLEC genes encoding Sia-recognizing Ig-like lectins (Siglecs). The last includes binding specificity changes (in Siglecs -5, -7, -9, -11, and -12); expression pattern changes (in Siglecs -1, -5, -6, and -11); gene conversion (SIGLEC11); and deletion or pseudogenization (SIGLEC13, SIGLEC14, and SIGLEC16). A nongenetic outcome of the CMAH mutation is human metabolic incorporation of foreign dietary Neu5Gc, in the face of circulating anti-Neu5Gc antibodies, generating a novel "xeno-auto-antigen" situation. Taken together, these data suggest that both the genes associated with Sia biology and the related impacts of the environment comprise a relative "hot spot" of genetic and physiological changes in human evolution, with implications for uniquely human features both in health and disease.

US$19.90

PMID: 20445087

DOI: 10.1073/pnas.0914634107


Other references

Wells, B.D., 1984: The conformation of the tRNAPhe anticodon loop monitored by fluorescence. The intrinsic fluorescence of the Wye base was used to study the conformational change of the anticodon loop of yeast tRNAPhe brought about by the addition of magnesium. The fluorescence emission and excitation spectra show dramatic changes as mag...

Grimm, W.; Hoffmann, J.; Menz, V.; Glaveris, C.; Mueller, H.H.; Hufnagel, G.; Maisch, B., 1999: Arrhythmia risk stratification in idiopathic dilated cardiomyopathy based on echocardiography, ECG, signal-averaged ECG and 24-hour Holter ECG. European Heart Journal 20(ABSTR SUPPL ): 8, Aug

Thompson, H.S.; Clarkson, P.M.; Scordilis, S.P., 2002: The repeated bout effect and heat shock proteins: intramuscular HSP27 and HSP70 expression following two bouts of eccentric exercise in humans. Exercise-induced damage significantly and predictably alters indirect indicators of muscle damage after one bout of damaging exercise but this response is dampened following a second bout of the same exercise performed 1-6 weeks later. Previously...

Berggren, P.; Kumar, R.; Sakano, S.; Hemminki, L.; Wada, T.; Steineck, G.; Adolfsson, J.; Larsson, P.; Norming, U.; Wijkström, H.; Hemminki, K., 2003: Detecting homozygous deletions in the CDKN2A(p16(INK4a))/ARF(p14(ARF)) gene in urinary bladder cancer using real-time quantitative PCR. 9p21 is a major target in the pathogenesis of human urinary bladder cancer. The locus harbors the CDKN2A/ARF tumor suppressor gene, which encodes two cell cycle regulatory proteins cyclin dependent kinase 2A (p16(INK4a)) and alternate reading fram...

Atienza, S.G.; Martín, A.C.; Martín, A., 2007: Introgression of wheat chromosome 2D or 5D into tritordeum leads to free-threshing habit. Hexaploid tritordeum is the amphiploid derived from the cross between the diploid wild barley Hordeum chilense and durum wheat. The non-free-threshing habit is a constraint to this species becoming a new crop. Three tritordeum lines (HT374, HT376,...

Wang B S., 1989: Application of the polarized microscopy and analytic electron microscopy in pneumoconiotic pathologic examination. 38 cases of pneumoconiotic pathologic slides have been reexamined by polarized microscopy, among these, 3 cases (every 1 case of silicosis, asbestosis, cement dusts pneumoconiosis) have investigated by analytic electron microscopy. Authors present...

Dai-En-Yong; Lu-Zhenxia; Shi-Jieping; Et-Al, 2004: The NAD(P)H: Quinone oxidoreductase 1 gene polymorphism and its association with colorectal cancer. Objective: To investigate the association between colorectal cancer genetic susceptibility and the genetic polymorphism of NQO1 (NAD (P)H: quinone oxidoreductase 1) gene caused by the point mutation of cDNA 609 C to T. Methods: The polymorphism of...

Krupa, T.; Eastabrook, S.; Beattie, P.; Carriere, R.; McIntyre, D.; Woodman, R., 2005: Challenges faced by service providers in the delivery of Assertive Community Treatment. This qualitative study examined the delivery of Assertive Community Treatment from the perspective of service providers of 4 ACT teams in southeastern Ontario. Overall, providers were positive about their involvement with ACT. Eight tensions exper...

Gunther S.; Zaidi S.; Oliventstein A.; Levine T.B., 1987: Osmotic regulation of atrial natriuretic peptide secretion in man. Clinical Research 35(3): 283A

Burgess Jack D.; Swetland P.J.; Demshur D., 1981: Oil generation and migration in the Wyoming thrust belt. Palynology 5: 233