Evanovich Eliane, Mendonça-Mattos Patricia Jeanne de Souza, Harada Maria Lúcia
Laboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, PA, Brazil.
Laboratório de Biologia Molecular "Francisco Mauro Salzano", Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, PA, Brazil.
Biochem Res Int. 2016;2016:9051727. doi: 10.1155/2016/9051727. Epub 2016 Dec 4.
Glycosyltransferase 6 gene family includes ABO, Ggta1, iGb3S, and GBGT1 genes and by three putative genes restricted to mammals, GT6m6, GTm6, and GT6m7, only the latter is found in primates. GT6 genes may encode functional and nonfunctional proteins. Ggta1 and GBGT1 genes, for instance, are pseudogenes in catarrhine primates, while iGb3S gene is only inactive in human, bonobo, and chimpanzee. Even inactivated, these genes tend to be conversed in primates. As some of the GT6 genes are related to the susceptibility or resistance to parasites, we investigated (i) the selective pressure on the GT6 paralogs genes in primates; (ii) the basis of the conservation of iGb3S in human, chimpanzee, and bonobo; and (iii) the functional potential of the GBGT1 and GT6m7 in catarrhines. We observed that the purifying selection is prevalent and these genes have a low diversity, though ABO and Ggta1 genes have some sites under positive selection. GT6m7, a putative gene associated with aggressive periodontitis, may have regulatory function, but experimental studies are needed to assess its function. The evolutionary conservation of iGb3S in humans, chimpanzee, and bonobo seems to be the result of proximity to genes with important biological functions.
糖基转移酶6基因家族包括ABO、Ggta1、iGb3S和GBGT1基因,以及三个仅存在于哺乳动物中的推定基因GT6m6、GTm6和GT6m7,其中只有后者在灵长类动物中被发现。GT6基因可能编码功能性和非功能性蛋白质。例如,Ggta1和GBGT1基因在旧世界猴灵长类动物中是假基因,而iGb3S基因仅在人类、倭黑猩猩和黑猩猩中无活性。即使这些基因失活,它们在灵长类动物中仍倾向于保守。由于一些GT6基因与对寄生虫的易感性或抗性有关,我们研究了:(i)灵长类动物中GT6旁系同源基因上的选择压力;(ii)人类、黑猩猩和倭黑猩猩中iGb3S保守性的基础;以及(iii)旧世界猴中GBGT1和GT6m7的功能潜力。我们观察到纯化选择普遍存在,这些基因的多样性较低,尽管ABO和Ggta1基因有一些处于正选择下的位点。与侵袭性牙周炎相关的推定基因GT6m7可能具有调节功能,但需要实验研究来评估其功能。人类、黑猩猩和倭黑猩猩中iGb3S的进化保守性似乎是由于靠近具有重要生物学功能的基因所致。