Figura 18 - uploaded by Kelly Nunes
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Orientadora: Eleidi A.Chautard Freire Maia Co-orientador: Ricardo L.R.de Souza Dissertação (mestrado) - Universidade Federal do Paraná, Setor de Ciências Biológicas, Programa de Pós-Graduação em Genética. Defesa: Curitiba, 2007 Inclui bibliografia
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... The R470 amino acid (arginine) is only conserved in the first three species and is substituted by tyrosine (F. catus, P. tigris, C. familiaris and G. gallus) or threonine (R. novergicus and M. musculus) [32]. Residue 294 is valine in humans and eight of these species, whereas a substitution to methionine is found in M. mulatta. ...
Human butyrylcholinesterase (BChE; EC 3.1.1.8) is codified by the BCHE gene (3q26.1-q26.2) in which 65 variants have been identified. BChE is a scavenger of organophosphorus and carbamate compounds and hydrolyzes succinylcholine, mivacurium and cocaine. The present study describes 12 naturally occurring BCHE mutations including five new mutations (K12R, G15G, V294M, G333C and R470W) identified in 366 blood donors from Southern Brazil. Exons 2 and 4 of the BCHE gene were examined by PCR-SSCA and samples with unexpected electrophoretic patterns were sequenced. The respective nucleotide substitution that characterizes each of the four new nonsynonymous mutations was introduced into BCHE cDNA by site directed mutagenesis and transfected into human embryonic kidney 293T cells and/or Chinese hamster ovary cells. The catalyzed hydrolysis of butyrylthiocholine (BTC) by BChE was measured by the Ellman method. Enzyme kinetic parameters obtained after the expression of the respective recombinant BChE evaluated the effects of the four nonsynonymous mutations. Thirty-four out of 366 individuals carried a BChE mutation in exon 2. The K variant mutation, A539T in exon 4, was present in one out of three persons. Gene expression showed that only one of the newly identified mutations (G333C) altered BChE activity, leading to a decrease of about 80% in relation to the wild-type enzyme.
... Considering that no information for other Amerindian samples has been reported for this SNP and that small samples were examined for groups with non-European ancestry, it is difficult to infer whether paleo-Amerindians had the -116A mutation and subsequently lost it due to micro evolutionary processes or if this mutation was not present in the founder group. Nunes (2007) determined that the -116A mutation was the ancestral mutation for this site in vertebrates based on the fact that this was the wild-type mutation present in the domestic dog Canis familiaris (GeneBank XM 545267), the domestic cat Felis catus (NM 001009364), the tiger Panthera tigris (AF 053484), the rhesus monkey Macaca mulatta (XR 011736) and the common chimpanzee Pan troglodytes (XM 516857) while in the brown rat Rattus norvegicus (NM 022942) and the house mouse Mus musculus (NM 009738) the wild type was the -116C variant and in the chicken Gallus gallus (AJ 306928) it was the -116G variant, similar to the most frequent variant in Homo sapiens (NM 000055). The fact that three other Brazilian Amerindian groups (Pacaás Novos, Sateré Mawé and Tenharim) showed lower BChE activity than this Guarani sample, together with data on the association of the -116A variant with low BChE activity, make these three groups important for the investigation of this variant. ...
Butyrylcholinesterase (BChE; EC 3.1.1.8; Online Mendelian Inheritance in Man (OMIM) number 177400) is an enzyme found in many human tissues and encoded by the BCHE gene, of which 65 variants have been identified. In a recent study we found that the -116A variant of exon 1 of the BCHE gene was associated with lower mean BChE activity.
The present study analyzed the -116 single nucleotide polymorphism (SNP) in 253 Guarani Amerindian Brazilians from the state of Mato Grosso do Sul (148 Guarani-Kaiowá, 83 Guarani-Ñandeva and 22 Kaiowá-Ñandeva descendants) and verified that they were all homozygotic for the -116G variant. A comparative analysis of the -116 site in nine vertebrate species indicated the -116A variant as the ancestral type. This is the first study of the -116 SNP in Amerindians and it is therefore difficult to infer whether or not the -116A variant was always absent from southern paleo-Amerindians or was present and then subsequently lost due to evolutionary factors.
