Novel SNPs and INDEL polymorphisms in the 3'UTR of DGAT1 gene: in silico analyses and a possible association.

Diacylglycerol-O-acyltransferase (DGAT1) gene encodes the rate-limiting enzyme of triglyceride synthesis. A polymorphism in this gene, DGAT1 K232A, has been associated with milk production and composition in taurine breeds. However, this polymorphism is not a good tool for ascertaining the effects of this QTL in Bos indicus (Zebu), since the frequency of the DGAT1 232A allele is too low in these breeds. We sequenced the 3'-untranslated region of DGAT1 gene in a sample of bulls of the breeds Guzerá (Bos indicus) and Holstein (Bos taurus) and, using in silico analysis, we searched for genetic variation, evolutionary conservation, regulatory elements, and possible substitution effects. Six single nucleotide (SNPs) and one insertion-deletion (INDEL) polymorphisms were found in the Guzerá bulls. Additionally, we developed a preliminary association study, using this INDEL polymorphism as a genetic marker. A significant association was detected (P ≤ 0.05) between the INDEL (DGAT1 3'UTR INDEL) and the breeding values (BV) for protein, fat, and milk yields over a 305-day lactation period. The DGAT1 3' UTR INDEL genotype I/I (I, for insertion) was associated with lower BVs (-38.77 kg for milk, -1.86 kg for fat, and -1.48 kg for protein yields), when compared to the genotype I/D (D, for deletion). I/D genotype was lower D/D genotype (-34.98 kg milk, -1.73 kg fat, and -1.09 kg protein yields). This study reports the first polymorphism of DGAT1 3'UTR in the Guzerá breed, as well as its association with BV for milk protein, fat, and milk yields.

Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil.

In order to determine the phenylketonuria (PKU) mutation spectrum in the population of Minas Gerais State, Brazil, 78 unrelated PKU patients found by the neonatal screening program from 1993 to 2003 were tested for nine phenylalanine hydroxylase mutations. These mutations were selected due to their high frequencies in other Brazilian populations and in Portugal, where the largest contingent of the Caucasian component of the Brazilian population originated from. The most frequent mutations were V388M (21%), R261Q (16%), IVS10nt11 (13.4%), I65T (5.7%), and R252W (5%). The frequencies of the other four mutations (R261X, R408W, Y414C, and IVS12nt1) did not reach 2%. By testing these nine mutations, we were able to identify 64% of the PKU alleles in our sample. V388M frequency was higher than in any other known population and almost three times larger than that observed in Portugal, probably reflecting genetic drift. The mutation profile, as well as the relative frequency of the different mutations, suggest that the Minas Gerais population more closely resembles that of Portugal than do the other Brazilian populations that have already been tested.

Genetic diversity between herds of Alpine and Saanen dairy goats and the naturalized Brazilian Moxotó breed

Brazilian naturalized goat breeds are adapted to the semiarid conditions prevalent in the Northeast region of the country (which has the largest Brazilian goat heard) and represent an as yet uninvestigated source of genetic diversity. Currently, imported goat breeds are crossed with Brazilian naturalized goat breeds, endangering the genetic potential of the naturalized breeds. We used 11 microsatellite markers to determine the genetic diversity among imported (non-naturalized) dairy Alpine and Saanen goats and naturalized Brazilian Moxotó goats. We genotyped 292 goats from three herds (one private, one from the University of Minas Gerais and the Moxotó conservation herd from Embrapa Caprinos) and found that the general heterozygosity was 0.6952 for Alpine, 0.7043 for Saanen and 0.4984 for Moxotó goats. The number of alleles ranged from 5 (INRA005) to 11 (BM3205), with an average of 7 alleles per locus in the imported breeds and 3.5 alleles per locus in the Moxotó breed. Mean differentiation between populations was higher for herds (F ST S = 0.0768) than for breeds (F ST P = 0.0263), indicating similarity between the imported breeds and the existence of crosses between them. Nei's genetic distance was highest between the Moxotó breed and the imported breeds. These indicate that further studies using these molecular markers would be fruitful.

Applicability of RAPD markers on silver-stained polyacrylamide gels to ascertain genetic diversity in Peripatus acacioi (Peripatidae; Onychophora).

RAPD (random amplification of polymorphic DNA) molecular markers can be utilized for analyzing genetic variability in populations for which only a few or no molecular markers are available. They were used in a study of an endangered species, Peripatus acacioi, found in the Tripuí Ecological Station, in Ouro Preto, MG, Brazil. The ecological station was specifically created to protect this velvet worm species, the first of this group found in Brazil. For an initial evaluation of the genetic diversity of this species, DNA samples from the lobopods of four individuals, collected at random, were analyzed using RAPD. Each reaction was run with a different primer (Operon RAPD 10-mer Kits), totaling 13 primers (OPC2, OPC3, OPC4, OPC6, OPC8, OPC10, OPC11, OPL2, OPL7, OPL11, OPL13, OPL18, and OPL19). Due to the low amplification yield, RAPD fragments were separated in polyacrylamide gels and stained with silver nitrate. Numerous bands were observed. Fifty-five of the amplified bands proved to be reproducible, both in terms of presence and intensity. Among these, 27 were variable and 28 were constant. The average number of bands per gel was 4.2. Nine of the 13 primers tested allowed the identification of constant and variable bands among these four individuals. RAPD analysis of genetic variation using silver-stained polyacrylamide gel electrophoresis provided measures of band sharing among the individuals, and therefore could be used in population genetics studies of P. acacioi.

Estudo genético-quantitativo de medidas lineares de eqüinos da raça Mangalarga Marchador -I. Estimativas dos fatores de ambiente e parâmetros genéticos / Genetic-quantitative study of body measurements of Mangalarga Marchador horse bred in Brazil -I. Estimates of genetic and environmental effects

Embora o interesse em pesquisas sobre morfologia em algumas espécies tenha sido menor do que aquele proporcionado aos estudos sobre a produtividade, as características em eqüinos são importantes por estarem intrinsecamente relacionadas à sua funcionalidade de aptidão. Desta forma, os objetivos do presente estudo foram os de estimar herdabilidades e correlações fenotípicas e genéticas entre doze medidas corporais provenientes dos Livros de Registro Genealógicos da Associação Brasileira dos Criadores do Cavalo Mangalarga Marchador, entre 1967 e 1992, por ocasião do Registro Genealógico de 29.076 animais. As estimativas foram efetuadas pelo método dos quadrados mínimos, através do programa Harvey (1990). Os efeitos fixos de ano, idade à avaliação e sexo foram significativos para a maioria das medidas estudadas. Estimativas de herdabilidade apresentam valores de moderados (0,40 para o perímetro torácico) a altos (0,80 para o comprimento do dorso), com um valor médio para as doze medidas corporais de 0,56, evidenciando a importância do componente genético aditivo nas características morfológicas dos animais Mangalarga Marchador. As correlações genéticas entre as características variaram de -0,09 (perímetro da canela-comprimento do dorso) a 0,96 (altura na cernelha - altura na garupa). Sessenta e três das 66 correlações possíveis (95,5%) apresentaram sinal positivo e destas, 40 (60,6%) apresentaram valor igual ou superior a 0,30. Este achado demonstra o sinergismo existente entre a maioria das características estudadas.

The objective of this study was to estimate heritabilities, genetic and phenotypic correlation of twelve body measurements of the Brazilian horse bred Mangalarga Marchador. Records from 29,076 animais, measured between 1967 and 1992, were analyzed by Least-Square and Maximum Likelihood Computer Program (Harvey, 1990). The fixed effect of year, age, and sex of foal were signifcant for most of the characteristics. Heritability estimates varied between 0.40 (thoracic diameter) to 0.80 (back length), with a medium value of 0.56, characterizing the importance of the genetic component of body measurements in horses. Genetic correlations varied between -0.09 (cannon diameter-back length) and 0.96 (withers height). Sixty-three of the 66 possible correlations (95.5%) were positive; 40 (60.6%) were superior to 0.30. lt was evident that selection for one (or combination) of traits would have effect on almost all other morphological traits.

Efeito da endogamia sobre a idade ao primeiro parto e o intervalo entre partos em uma populaçäo de elite da raça Nelore / Effect of inbreeding on age at first calving and calving intervals in a elite herd of Nelore cattle

Objetivou-se quantificar os efeitos da endogamia sobre a idade ao primeiro parto e intervalo entre partos de um rebanho de elite, da raça Nelore, explorado na Chácara Zebulândia, Estado de Säo Paulo. A amostra analisada constituiu-se de 792 registros genealógicos de fêmeas nascidas no período de 1960 a 1981. O modelo utilizado na análise de variância da idade ao primeiro parto incluiu os efeitos de ano e mês de nascimento da novilha como variáveis de classificaçäo de endogamia como covariável. Para os intervalos entre partos, o modelo incluiu os efeitos de mês, ano e ordem de pariçäo covariável. O modelo MTY 01, do método dos quadrados mínimos com números desiquais nas sub-classes, foi o adotado. O coeficiente médio de endogamia da populaçäo de vacas foi de 4,77 ñ 7,48%. As médias ajustadas e desvios padr*es da idade ao primeiro parto, do primeiro intervalo entre partos e do conjunto de intervalo entre partos foram 1248,73 ñ 178,59; 497,45 ñ 99,68 e 453,17 ñ 99,06 dias, respectivamente. O efeito da endogamia, estudado pela regressäo linear, foi signifcativo (P < 0,05) sobre a idade ao primeiro parto e primeiro intervalo entre partos. A cada 1% de aumento no coeficiente de endogamia correspondeu a um aumento de 2,36 ñ 0,95 e 1,59 ñ 0,62 dias nessas duas características. Nos intervalos subsequentes a endogamia näo exerceu efeito significativo, possivelmente pelo descarte precoce de vacas mais endogâmicas