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Characterization of gene polymorphisms related to immune system physiology in Mangalarga horses Arq. Bras. Med. Vet. Zootec.
Prioli,R.A.; Curi,R.A.; Chardulo,L.A.; Gomes,V.N.; Prioli,S.M.A.P.; Mota,M.D.S..
The objectives of this study were to standardize a PCR-RFLP genotyping method for the AY_731081:g.1900T>C SNP of the equine CD14 gene, and to characterize this SNP and two other polymorphisms (AY_005808: c.1530A>G of the TLR4 gene and AX_463789: g.133T>C of the Cε gene) in Mangalarga horses, in order to contribute to future studies investigating the association between DNA markers and traits related to immune system physiology in this breed. A total of 151 Mangalarga horses of both sexes and variable ages, representative of the population of São Paulo State, were used. PCR-RFLP was found to be adequate for genotyping of the AY_731081: g.1900T>C SNP of the equine CD14 gene. However, this polymorphism is probably not present in Mangalarga horses,...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Horse; CD14; ; SNP; TLR4.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352012000500030
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Seleção genômica ampla para curvas de crescimento Arq. Bras. Med. Vet. Zootec.
Silva,F.F.; Rocha,G.S.; Resende,M.D.V.; Guimarães,S.E.F.; Peternelli,L.A.; Duarte,D.A.S.; Azevedo,C..
Foi proposta uma metodologia para avaliação genética de curvas de crescimento considerando-se informações de marcadores SNPs (Single Nucleotide Polymorphisms). Em um primeiro passo foram ajustados modelos de crescimento não lineares (logístico) aos dados de peso-idade de cada animal, e em um segundo passo as estimativas dos parâmetros de tais modelos foram consideradas como fenótipos em um modelo de regressão (LASSO Bayesiano - BL) cujas covariáveis foram os genótipos dos marcadores SNPs. Este enfoque possibilitou estimar os valores genéticos genômicos (GBV) para peso em qualquer tempo da trajetória de crescimento, refletindo na confecção de curvas de crescimento genômicas, as quais permitiram a identificação de grupos de indivíduos geneticamente...
Tipo: Info:eu-repo/semantics/article Palavras-chave: SNP; LASSO bayesiano; Dados longitudinais.
Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352013000500033
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Association of PRKAA1 gene polymorphisms with chronic hepatitis B virus infection in Chinese Han population BJID
Yuan,Jun; Zhang,Yan; Yan,Fu-tang; Zheng,Xiao.
ABSTRACT Objective: Studies have indicated that AMPK play critical roles in the regulation of innate immunity and inflammatory responses. However, the role of the polymorphisms of PRKAA1 gene in immune-response to infectious organisms remains unknown. To evaluate the potential role of PRKAA1/AMPKα1 in the immune-response to HBV, we conducted this case-control study. Methods: We recruited 276 patients (145 men and 131 women; average age, 51.6 years) with chronic HBV infection (CHB) and 303 healthy controls (166 men and 137 women; average age, 54.2 years). All the subjects were unrelated individuals of Chinese Han Population. Three SNPs of PRKAA1gene were tested. Results: Rs1002424 polymorphism showed significant difference in the allele frequencies, but...
Tipo: Info:eu-repo/semantics/article Palavras-chave: HBV; PRKAA1 gene; SNP; Association study.
Ano: 2016 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702016000600564
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Genetic association of SNPs in the FTO gene and predisposition to obesity in Malaysian Malays BJMBR
Apalasamy,Y.D.; Ming,M.F.; Rampal,S.; Bulgiba,A.; Mohamed,Z..
The common variants in the fat mass- and obesity-associated (FTO) gene have been previously found to be associated with obesity in various adult populations. The objective of the present study was to investigate whether the single nucleotide polymorphisms (SNPs) and linkage disequilibrium (LD) blocks in various regions of the FTO gene are associated with predisposition to obesity in Malaysian Malays. Thirty-one FTO SNPs were genotyped in 587 (158 obese and 429 non-obese) Malaysian Malay subjects. Obesity traits and lipid profiles were measured and single-marker association testing, LD testing, and haplotype association analysis were performed. LD analysis of the FTO SNPs revealed the presence of 57 regions with complete LD (D’ = 1.0). In addition, we...
Tipo: Info:eu-repo/semantics/article Palavras-chave: FTO gene; SNP; Obesity; Linkage disequilibrium; Haplotypes.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001200003
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Single-nucleotide polymorphism analysis of GH, GHR, and IGF-1 genes in minipigs BJMBR
Tian,Y.G.; Yue,M.; Gu,Y.; Gu,W.W.; Wang,Y.J..
Tibetan (TB) and Bama (BM) miniature pigs are two popular pig breeds that are used as experimental animals in China due to their small body size. Here, we analyzed single-nucleotide polymorphisms (SNPs) in gene fragments that are closely related to growth traits [growth hormone (GH), growth hormone receptor (GHR), and insulin-like growth factor (IGF)-1)] in these pig breeds and a large white (LW) control pig breed. On the basis of the analysis of 100 BMs, 108 TBs, and 50 LWs, the polymorphic distribution levels of GH, GHR, and IGF-1 were significantly different among these three pig breeds. According to correlation analyses between SNPs and five growth traits - body weight (BW), body length (BL), withers height (WH), chest circumference (CC), and abdomen...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Minipigs; SNP; GH; GHR; IGF-1.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014000900753
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Heterozygous HTRA1 missense mutation in CADASIL-like family disease BJMBR
Wu,Xiaowei; Li,Changxin; Mao,Jinming; Li,Ling; Liu,Yan; Hou,Yao.
The aim of this study was to find related pathogenic genes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in (CADASIL)-like patients. The direct sequencing and high-throughput multiplex polymerase chain reaction (PCR) was performed to screen for related genes. The clinical and imaging data of a CADASIL-like patient (the pro-band) and his family members were collected. At first, the known hereditary cerebral vascular genes of the pro-band were screened with direct sequencing to find candidate gene mutations. High-throughput multiplex PCR was then used to analyze the single nucleotide polymorphism of the candidate gene in the family members. The results showed that there was missense mutation of the high...
Tipo: Info:eu-repo/semantics/article Palavras-chave: HTRA1; CADASIL-like; SNP; Cerebral small vessel disease.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000500602
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The optimal number of partial least squares components in genomic selection for pork pH Ciência Rural
Silveira,Fernanda Gomes da; Duarte,Darlene Ana Souza; Chaves,Lucas Monteiro; Silva,Fabyano Fonseca e; Filho,Ivan Carvalho; Duarte,Marcio de Souza; Lopes,Paulo Sávio; Guimarães,Simone Eliza Facioni.
ABSTRACT: The main application of genomic selection (GS) is the early identification of genetically superior animals for traits difficult-to-measure or lately evaluated, such as meat pH (measured after slaughter). Because the number of markers in GS is generally larger than the number of genotyped animals and these markers are highly correlated owing to linkage disequilibrium, statistical methods based on dimensionality reduction have been proposed. Among them, the partial least squares (PLS) technique stands out, because of its simplicity and high predictive accuracy. However, choosing the optimal number of components remains a relevant issue for PLS applications. Thus, we applied PLS (and principal component and traditional multiple regression)...
Tipo: Info:eu-repo/semantics/article Palavras-chave: SNP; Genomic prediction; Meat quality.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782017000100652
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Factor 9 de crecimiento y diferenciación asociado al índice de prolificidad en la oveja pelibuey. Colegio de Postgraduados
Pérez Ruíz, Elizabeth.
El Factor 9 de Crecimiento y Diferenciación (GDF9) es miembro de la súperfamilia β de factores de crecimiento (TGFβ) y su expresión en el ovocito es esencial para el desarrollo y crecimiento folicular. Diferentes mutaciones en el gen GDF9 han sido asociadas con el incremento de tasa de ovulación y/o prolificidad en algunas razas de ovejas, por lo que el objetivo de este estudio fue la búsqueda de polimorfismos de una sola base (SNPs) en el gen GDF9, así como la asociación entre polimorfismos del gen GDF9 y el índice de prolificidad en ovejas de la raza Pelibuey. Se tomaron muestras sanguíneas de la vena yugular de 16 ovejas y fueron conservadas en papel FTA® (Whatman Mini Card). El exón dos del gen fue amplificado mediante la técnica de Polimerase Chain...
Palavras-chave: Análisis de secuencias; GDF9; Mutación; Polimorfismo; PCR; SNP; Sequence analysis; Mutation; Polymorphism; Maestría; Ganadería.
Ano: 2012 URL: http://hdl.handle.net/10521/1712
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Desarrollo y validación de marcadores moleculares para identificar genotipos de maíz de calidad proteínica. Colegio de Postgraduados
Hernández Rodríguez, Martha.
El maíz (Zea mays L.) de calidad proteínica (QPM) es nutricionalmente superior en comparación con el maíz normal, porque produce semillas con casi el doble de los aminoácidos (aa) lisina (Lys) y triptófano (Trp), esenciales para la síntesis endógena de la vitamina B niacina. Actualmente, la conversión de una línea de maíz normal a una QPM, se acelera mediante la selección asistida por marcadores moleculares (MAS) y métodos de detección química. En este estudio se reporta el desarrollo y validación de marcadores basados en polimorfismos de un solo nucleótido (SNPs) para los loci opaque-2 (o2) y Ask-2, involucrados en la genética de los QPM, así como la interacción de ambos loci para el contenido de 11 aa en el endospermo de dos poblaciones F2 de maíz,...
Palavras-chave: Zea mays; Opaque-2; Ask-2; MAS; QPM; SNP; SSCP; Genética; Doctorado.
Ano: 2013 URL: http://hdl.handle.net/10521/2319
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One-step, codominant detection of imidazolinone resistance mutations in weedy rice (Oryza sativa L.) Electron. J. Biotechnol.
Rosas,Juan E; Bonnecarrère,Victoria; Pérez de Vida,Fernando.
Background Weedy rice (Oryza sativa L.) is a noxious form of cultivated rice (O. sativa L.) associated with intensive rice production and dry seeding. A cost-efficient strategy to control this weed is the Clearfield rice production system, which combines imidazolinone herbicides with mutant imidazolinone-resistant rice varieties. However, imidazolinone resistance mutations can be introgressed in weedy rice populations by natural outcrossing, reducing the life span of the Clearfield technology. Timely and accurate detection of imidazolinone resistance mutations in weedy rice may contribute to avoiding the multiplication and dispersion of resistant weeds and to protect the Clearfield system. Thus, highly sensitive and specific methods with high throughput...
Tipo: Journal article Palavras-chave: Clearfield rice; DNA-based resistance diagnosis; Herbicide resistance; KASP; Red rice; SNP.
Ano: 2014 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-34582014000200007
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Expression profiles and polymorphism analysis of CDIPT gene on Qinchuan cattle Electron. J. Biotechnol.
Fu,Changzhen; Wang,Hong; Li,Yaokun; Wang,Jiali; Cheng,Gong; Wang,Hongbao; Yang,Wucai; Zan,Linsen.
Background CDIPT (CDP-diacylglycerol-inositol 3-phosphatidyltransferase, EC 2.7.8.11) was found on the cytoplasmic side of the Golgi apparatus and the endoplasmic reticulum. It was an integral membrane protein performing the last step in the de novo biosynthesis of phosphatidylinositol (PtdIns). In recent years, PtdIns has been considered to play an essential role in energy metabolism, fatty acid metabolic pathway and intracellular signal transduction in eukaryotic cells. Results In this study, the results of real-time polymerase chain reaction (PCR) showed that the expression of CDIPT gene was remarkably different in diverse tissues. We also detected the polymorphism of bovine CDIPT gene and analyzed its association with body measurement and meat quality...
Tipo: Journal article Palavras-chave: Body measurement traits; Gene expression; Meat quality traits; PCR-RFLP; SNP.
Ano: 2014 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-34582014000400004
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Meat tenderness genetic polymorphisms occurrence and distribution in five Zebu breeds in Mexico Electron. J. Biotechnol.
Parra-Bracamonte,Gaspar Manuel; Martínez-González,Juan C; Sifuentes-Rincón,Ana M; Moreno-Medina,Victor R; Ortega-Rivas,Eligio.
Background The Zebu cattle are represented by a diverse group of breeds in México. Traditionally these breeds have been associated with the tough beef characteristic. Validated genetic markers have the potential to be included in marker-assisted selection and management programs in order to improve traits such as beef tenderness. The incidence and distribution of Calpain and Calpastatin polymorphisms strongly associated with beef tenderness were estimated in registered cattle of five Zebu breeds in Mexico. Results A low and in some cases null frequency of favorable C allele of CAPN316 was determined in all breeds. Conversely, a more equilibrated frequency in CAPN4751 and CAST loci was observed. Conclusions Although the relatively low occurrence of...
Tipo: Journal article Palavras-chave: Calpain; Calpastatin; Frequencies; Genotype; SNP.
Ano: 2015 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-34582015000500007
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A C1069G SNP of the MC4R gene and its association with economic traits in Korean native cattle (brown, brindle, and black) Electron. J. Biotechnol.
Lee,Youngsub; Park,Sairom; Kim,Hun; Lee,Seung Kyu; Kim,Jin Woo; Lee,Hak Kyo; Jeong,Dong Kee; Lee,Sung Jin.
Background: The melanocortin-4 receptor gene (MC4R) plays an important role in regulating food intake and body weight in mammals. In the present study, we identified the MC4R gene in native Korean brown, brindle, and black cattle by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP), and investigated its association with economic traits. A total of 413 cattle from the three breeds were tested for backfat thickness, carcass weight, longissimus muscle area, and marbling score, and statistical data were analyzed using the SAS program. Results: The C allele had the highest frequency in brown and brindle cattle, and the G allele frequency was highest in black cattle. The C1069G SNP was significantly (p < 0.05) associated with only...
Tipo: Journal article Palavras-chave: Economic trait; Marbling scores; MC4R gene; PCR-RFLP; SNP.
Ano: 2013 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-34582013000500014
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Polymorphisms of the bovine chemokine receptor-like 1 gene and their associations with meat quality traits in Qinchuan cattle (Bos taurus) Electron. J. Biotechnol.
Zhan,Xiaoli; Jiang,Bijie; Ma,Xianghui; Fu,Changzhen; Zan,Linsen.
Background: We investigated the polymorphisms of the bovine chemokine receptor-like 1(CMKLR1) gene. The coding region of CMKLR1 was screened in Qinchuan cattle by PCR-RFLP technology. Results: In this study, we discovered two single nucleotide polymorphisms (SNPs) (264G > C and 762C > T) in the coding region of the CMKLR1 gene. Hence, we described the BmgT120l and Pdm1 PCR-RFLP methods for detecting the 64G > C and 762C > T mutations, respectively. PCR-RFLP and sequencing were used to analyze the two loci of CMKLR1 gene in 324 individuals, which were randomly selected from breeding populations. Furthermore, meat quality traits in another 80 Qinchuan individuals were analyzed by the comparison between the genotypes and their phenotypic data....
Tipo: Journal article Palavras-chave: CMKLR1 gene; Meat quality traits; PCR-RFLP; Qinchuan cattle; SNP.
Ano: 2013 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-34582013000100003
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Chromosomal localization and molecular marker development of the lipopolysaccharide and beta-1,3-glucan binding protein gene in the Zhikong scallop Chlamys farreri (Jones et Preston) (Pectinoida, Pectinidae) Genet. Mol. Biol.
Huan,Pin; Zhang,Xiaojun; Li,Fuhua; Zhang,Yang; Zhao,Cui; Xiang,Jianhai.
Zhikong scallop Chlamys farreri (Jones et Preston) is an economically important species in China. Understanding its immune system would be of great help in controlling diseases. In the present study, an important immunity-related gene, the Lipopolysaccharide and Beta-1,3-glucan Binding Protein (LGBP) gene, was located on C. farreri chromosomes by mapping several lgbp-containing BAC clones through fluorescence in situ hybridization (FISH). Through the localization of various BAC clones, it was shown that only one locus of this gene existed in the genome of C. farreri, and that this was located on the long arm of a pair of homologous chromosomes. Molecular markers, consisting of eight single nucleotide polymorphism (SNPs) markers and one insertion-deletion...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Chlamys farreri; LGBP; Fluorescence in situ hybridization (FISH); Indel; SNP.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000100008
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Identification of novel single nucleotide polymorphisms in the DGAT1 gene of buffaloes by PCR-SSCP Genet. Mol. Biol.
Raut,Ashwin A.; Kumar,Anil; Kala,Sheo N.; Chhokar,Vinod; Rana,Neeraj; Beniwal,Vikas; Jaglan,Sundeep; Samuchiwal,Sachin K.; Singh,Jitender K.; Mishra,Anamika.
Diacylglycerol O-acyltransferase 1 (DGAT1) is a microsomal enzyme that catalyzes the final step of triglyceride synthesis. The DGAT1 gene is a strong functional candidate for determining milk fat content in cattle. In this work, we used PCR-SSCP (polymerase chain reaction-single-strand conformation polymorphism) and DNA sequencing to examine polymorphism in the region spanning exon 7 to exon 9 of the DGAT1 gene in Murrah and Pandharpuri buffaloes. Three alleles (A, B and C) and four novel single-nucleotide polymorphisms were identified in the buffalo DGAT1 gene. The frequencies of the alleles differed between the two buffalo breeds, with allele C being present in Murrah but not in Pandharpuri buffalo. The allele variation detected in this work may...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Buffalo; DGAT1; PCR-SSCP; Polymorphism; SNP.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400011
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Dyslexia risk variant rs600753 is linked with dyslexia-specific differential allelic expression of DYX1C1 Genet. Mol. Biol.
Müller,Bent; Boltze,Johannes; Czepezauer,Ivonne; Hesse,Volker; Wilcke,Arndt; Kirsten,Holger.
Abstract An increasing number of genetic variants involved in dyslexia development were discovered during the last years, yet little is known about the molecular functional mechanisms of these SNPs. In this study we investigated whether dyslexia candidate SNPs have a direct, disease-specific effect on local expression levels of the assumed target gene by using a differential allelic expression assay. In total, 12 SNPs previously associated with dyslexia and related phenotypes were suitable for analysis. Transcripts corresponding to four SNPs were sufficiently expressed in 28 cell lines originating from controls and a family affected by dyslexia. We observed a significant effect of rs600753 on expression levels of DYX1C1 in forward and reverse sequencing...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Dyslexia; SNP; EQTL; Differential allelic expression.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100041
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Aromatase gene and its effects on growth, reproductive and maternal ability traits in a multibreed sheep population from Brazil Genet. Mol. Biol.
Lôbo,Ana Maria Bezerra Oliveira; Lôbo,Raimundo Nonato Braga; Paiva,Samuel Rezende.
We determined the polymorphism C242T of the aromatase gene (Cyp19) and its allelic frequency, as well as the effect of the variants on productive and reproductive traits in 71 purebred Santa Inês sheep, 13 purebred Brazilian Somali sheep, nine purebred Poll Dorset sheep, and 18 crossbred 1/2 Dorper sheep. The animals were genotyped using the PCR-RFLP technique. The influence of the animal's genotype on its performance or on the performance of its lambs was analyzed by the least square method. Another factor assessed was the importance of the animal's genotype in analysis models for quantitative breeding value estimates, and whether there were differences among the averages of breeding values of animals with different genotypes for this gene. In the sample...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Body weight; Lambing interval; PCR-RFLP; Polymorphism; SNP; Litter weight.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000300010
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The cuttable C-related genotype and allele for the E-cadherin 3’-UTR Pml I polymorphism are associated with higher susceptibility to endometriosis Genet. Mol. Biol.
Hsieh,Yao-Yuan; Chang,Chi-Chen; Tsai,Fuu-Jen; Hsu,Chin-Moo; Lin,Cheng-Chieh; Tsai,Chang-Hai.
Epithelial cadherin (E-cadherin; CDH1) may influence pericellular proteolysis and intracellular signal transduction, which plays an essential part of tumor invasion. In our study we investigated the correlation between CDH1 gene polymorphism and endometriosis in two groups of pre-menopausal Taiwanese women, group 1 (n = 150) consisting of women with severe stage IV endometriosis and group 2 (n = 159) of women with no endometriosis. The polymerase chain reaction (PCR) was used to identify the cuttable (C) and uncuttable (T) polymorphism of the CDH1-Pml I gene (rs1801026) located on the 3’-untranslated region (3’-UTR) of chromosome 16 and compare the genotypes and allelic frequencies of this gene in both groups. We found that the genotype and allele...
Tipo: Info:eu-repo/semantics/other Palavras-chave: Endometriosis; E-cadherin; Polymorphism; SNP.
Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000500003
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Genome-wide association study for birth, weaning and yearling weight in Colombian Brahman cattle Genet. Mol. Biol.
Martínez,Rodrigo; Bejarano,Diego; Gómez,Yolanda; Dasoneville,Romain; Jiménez,Ariel; Even,Gael; Sölkner,Johann; Mészáros,Gabor.
Abstract Genotypic and phenotypic data of 1,562 animals were analyzed to find genomic regions that potentially influence the birth weight (BW), weaning weight at seven months of age (WW) and yearling weight (YW) of Colombian Brahman cattle, with genotyping conducted using Illumina Bead chip array with 74,669 SNPs. A Single Step Genomic BLUP (ssGBLP), approach was used to estimate the proportion of variance explained by each marker. Multiple regions scattered across the genome were found to influence weights at different ages, also dependent on the trait component (direct or maternal). The most interesting regions were connected to previously identified QTLs and genes, such as ADAMTSL3, CAPN2, CAPN2, FABP6, ZEB2 influencing growth and weight traits. The...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Bos indicus; SNP; QTL; GWAS; Body weight.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300453
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