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1.
Mol Biol Evol ; 38(6): 2260-2272, 2021 05 19.
Artigo em Inglês | MEDLINE | ID: mdl-33528505

RESUMO

In the course of evolution, pecorans (i.e., higher ruminants) developed a remarkable diversity of osseous cranial appendages, collectively referred to as "headgear," which likely share the same origin and genetic basis. However, the nature and function of the genetic determinants underlying their number and position remain elusive. Jacob and other rare populations of sheep and goats are characterized by polyceraty, the presence of more than two horns. Here, we characterize distinct POLYCERATE alleles in each species, both associated with defective HOXD1 function. We show that haploinsufficiency at this locus results in the splitting of horn bud primordia, likely following the abnormal extension of an initial morphogenetic field. These results highlight the key role played by this gene in headgear patterning and illustrate the evolutionary co-option of a gene involved in the early development of bilateria to properly fix the position and number of these distinctive organs of Bovidae.


Assuntos
Evolução Biológica , Cabras/genética , Proteínas de Homeodomínio/genética , Cornos , Ovinos/genética , Animais , Biometria , Regulação da Expressão Gênica no Desenvolvimento , Cabras/embriologia , Cabras/metabolismo , Proteínas de Homeodomínio/metabolismo , Masculino , Camundongos Transgênicos , Mutação , Ovinos/embriologia , Ovinos/metabolismo
2.
Genet Sel Evol ; 53(1): 86, 2021 Nov 08.
Artigo em Inglês | MEDLINE | ID: mdl-34749642

RESUMO

BACKGROUND: Since their domestication 10,500 years ago, goat populations with distinctive genetic backgrounds have adapted to a broad variety of environments and breeding conditions. The VarGoats project is an international 1000-genome resequencing program designed to understand the consequences of domestication and breeding on the genetic diversity of domestic goats and to elucidate how speciation and hybridization have modeled the genomes of a set of species representative of the genus Capra. FINDINGS: A dataset comprising 652 sequenced goats and 507 public goat sequences, including 35 animals representing eight wild species, has been collected worldwide. We identified 74,274,427 single nucleotide polymorphisms (SNPs) and 13,607,850 insertion-deletions (InDels) by aligning these sequences to the latest version of the goat reference genome (ARS1). A Neighbor-joining tree based on Reynolds genetic distances showed that goats from Africa, Asia and Europe tend to group into independent clusters. Because goat breeds from Oceania and Caribbean (Creole) all derive from imported animals, they are distributed along the tree according to their ancestral geographic origin. CONCLUSIONS: We report on an unprecedented international effort to characterize the genome-wide diversity of domestic goats. This large range of sequenced individuals represents a unique opportunity to ascertain how the demographic and selection processes associated with post-domestication history have shaped the diversity of this species. Data generated for the project will also be extremely useful to identify deleterious mutations and polymorphisms with causal effects on complex traits, and thus will contribute to new knowledge that could be used in genomic prediction and genome-wide association studies.


Assuntos
Estudo de Associação Genômica Ampla , Genoma , Animais , Domesticação , Variação Genética , Genômica , Cabras/genética
3.
J Dairy Sci ; 104(1): 588-601, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33131807

RESUMO

The enhanced availability of sequence data in livestock provides an opportunity for more accurate predictions in routine genomic evaluations. Such evaluations would therefore no longer rely only on the linkage disequilibrium between a chip marker and the causal mutation. The objective of this study was to assess the usefulness of sequence data in Saanen goats (n = 33) to better capture a quantitative trait locus (QTL) on chromosome 19 (CHI19) and improve the accuracy of predictions for 3 milk production traits, 5 type traits, and somatic cell scores. All 1,207 50K genotypes were imputed to the sequence level. Four scenarios, each using a subset of CHI19 imputed variants, were then tested. Sequence-derived information included all CHI19 variants (529,576), all variants in the QTL region (22,269), 178 variants selected in the QTL region and added to an updated chip, or 178 randomly selected variants on CHI19. Two genomic evaluation models were applied: single-step genomic BLUP and weighted single-step genomic BLUP. All scenarios were compared with single-step genomic BLUP using 50K genotypes. Best overall results were obtained using single-step genomic BLUP on 50K genotypes completed with all variants in the QTL region of chromosome 19 (6.2% average increase in accuracy for 9 traits) with the highest accuracy gain for fat yield (17.9%), significant increases for milk (13.7%) and protein yields (12.5%), and type traits associated with CHI19. Despite its association with the QTL region of chromosome 19, the somatic cell score showed decreased accuracy in every alternative scenario. Using all CHI19 variants led to an overall decrease of 4.8% in prediction accuracy. The updated chip was efficient and improved genomic evaluations by 3.1 to 6.4% on average, depending on the scenario. Indeed, information from only a few carefully selected variants increased accuracies for traits of interest when used in a single-step genomic BLUP model. In conclusion, using QTL region variants imputed from sequence data in single-step genomic evaluations represents a promising perspective for such evaluations in dairy goats. Furthermore, using only a limited number of selected variants in QTL regions, as available on SNP chip updates, significantly increases the accuracy for QTL-associated traits without deteriorating the evaluation accuracy for other traits. The latter approach is interesting, as it avoids time-consuming imputation and data formatting processes and provides reliable genotypes.


Assuntos
Variação Genética , Genômica , Cabras/genética , Locos de Características Quantitativas , Animais , Mapeamento Cromossômico/veterinária , Genômica/métodos , Genótipo , Desequilíbrio de Ligação , Leite/metabolismo , Modelos Genéticos , Análise de Sequência com Séries de Oligonucleotídeos/veterinária , Fenótipo , Polimorfismo de Nucleotídeo Único
4.
BMC Genet ; 21(1): 19, 2020 02 21.
Artigo em Inglês | MEDLINE | ID: mdl-32085723

RESUMO

BACKGROUND: Goats were domesticated 10,500 years ago to supply humans with useful resources. Since then, specialized breeds that are adapted to their local environment have been developed and display specific genetic profiles. The VarGoats project is a 1000 genomes resequencing program designed to cover the genetic diversity of the Capra genus. In this study, our main objective was to assess the use of sequence data to detect genomic regions associated with traits of interest in French Alpine and Saanen breeds. RESULTS: Direct imputation from the GoatSNP50 BeadChip genotypes to sequence level was investigated in these breeds using FImpute and different reference panels: within-breed, all Capra hircus sequenced individuals, European goats and French mainland goats. The best results were obtained with the French goat panel with allele and genotype concordance rates reaching 0.86 and 0.75 in the Alpine and 0.86 and 0.73 in the Saanen breed respectively. Mean correlations tended to be low in both breeds due to the high proportion of variants with low frequencies. For association analysis, imputation was performed using FImpute for 1129 French Alpine and Saanen males using within-breed and French panels on 23,338,436 filtered variants. The association results of both imputation scenarios were then compared. In Saanen goats, a large region on chromosome 19 was significantly linked to semen volume and milk yield in both scenarios. Significant variants for milk yield were annotated for 91 genes on chromosome 19 in Saanen goats. For semen volume, the annotated genes include YBOX2 which is related to azoospermia or oligospermia in other species. New signals for milk yield were detected on chromosome 2 in Alpine goats and on chromosome 5 in Saanen goats when using a multi-breed panel. CONCLUSION: Even with very small reference populations, an acceptable imputation quality can be achieved in French dairy goats. GWAS on imputed sequences confirmed the existence of QTLs and identified new regions of interest in dairy goats. Adding identified candidates to a genotyping array and sequencing more individuals might corroborate the involvement of identified regions while removing potential imputation errors.


Assuntos
Estudo de Associação Genômica Ampla , Genoma , Genômica , Cabras/genética , Leite , Fenótipo , Sêmen , Algoritmos , Animais , Ligação Genética , Genômica/métodos , Genótipo , Masculino , Modelos Genéticos , Locos de Características Quantitativas , Sequenciamento Completo do Genoma
5.
Heredity (Edinb) ; 122(5): 636-646, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30401973

RESUMO

Goats (Capra hircus) are an important farm animal species. Copy number variation (CNV) represents a major source of genomic structural variation. We investigated the diversity of CNV distribution in goats using CaprineSNP50 genotyping data generated by the ADAPTmap Project. We identified 6286 putative CNVs in 1023 samples from 50 goat breeds using PennCNV. These CNVs were merged into 978 CNV regions, spanning ~262 Mb of total length and corresponding to ~8.96% of the goat genome. We then divided the samples into six subgroups per geographic distribution and constructed a comparative CNV map. Our results revealed a population differentiation in CNV across different geographical areas, including Western Asia, Eastern Mediterranean, Alpine & Northern Europe, Madagascar, Northwestern Africa, and Southeastern Africa groups. The results of a cluster heatmap analysis based on the CNV count per individual across different groups was generally consistent with the one generated from the SNP data, likely reflecting the population history of different goat breeds. We sought to determine the gene content of these CNV events and found several important CNV-overlapping genes (e.g. EDNRA, ADAMTS20, ASIP, KDM5B, ADAM8, DGAT1, CHRNB1, CLCN7, and EXOSC4), which are involved in local adaptations such as coat color, muscle development, metabolic processes, osteopetrosis, and embryonic development. Therefore, this research generated an extensive CNV map in the worldwide population of goat, which offers novel insight into the goat genome and its functional annotation.


Assuntos
Variações do Número de Cópias de DNA , Variação Genética , Cabras/genética , Animais , Cruzamento , Análise por Conglomerados , Evolução Molecular , Genética Populacional , Genoma/genética
6.
Genet Sel Evol ; 50(1): 55, 2018 Nov 19.
Artigo em Inglês | MEDLINE | ID: mdl-30449282

RESUMO

BACKGROUND: International standard panels of single nucleotide polymorphisms (SNPs) have replaced microsatellites in several species for parentage assessment and assignment (PA) purposes. However, such a resource is still lacking in goats. The application of a cheap tool for PA would help the management of goat populations by improving the reliability of pedigree registration and, consequently, allow a better implementation of breeding schemes or conservation programs. RESULTS: Using data from the current GoatSNP50 chip, starting from a worldwide dataset of more than 4000 animals belonging to more than 140 breeds and populations from the AdaptMap initiative, we selected a panel of 195 SNPs. The assignment rate of this panel was up to 100% on an additional dataset that included 2000 Alpine and Saanen animals and highly related candidate sires. CONCLUSIONS: In this study, we defined a highly informative SNP panel, which will be publicly available to worldwide breeders and laboratories. Its development on such a large number of breeds and populations, together with validation on a second set of cosmopolitan breeds, makes it a promising and important genomic tool for the goat species.


Assuntos
Cruzamento/métodos , Cabras/genética , Polimorfismo de Nucleotídeo Único , Animais , Feminino , Frequência do Gene , Desequilíbrio de Ligação , Masculino , Processos de Determinação Sexual
7.
Genet Sel Evol ; 50(1): 57, 2018 Nov 19.
Artigo em Inglês | MEDLINE | ID: mdl-30449276

RESUMO

BACKGROUND: Since goat was domesticated 10,000 years ago, many factors have contributed to the differentiation of goat breeds and these are classified mainly into two types: (i) adaptation to different breeding systems and/or purposes and (ii) adaptation to different environments. As a result, approximately 600 goat breeds have developed worldwide; they differ considerably from one another in terms of phenotypic characteristics and are adapted to a wide range of climatic conditions. In this work, we analyzed the AdaptMap goat dataset, which is composed of data from more than 3000 animals collected worldwide and genotyped with the CaprineSNP50 BeadChip. These animals were partitioned into groups based on geographical area, production uses, available records on solid coat color and environmental variables including the sampling geographical coordinates, to investigate the role of natural and/or artificial selection in shaping the genome of goat breeds. RESULTS: Several signatures of selection on different chromosomal regions were detected across the different breeds, sub-geographical clusters, phenotypic and climatic groups. These regions contain genes that are involved in important biological processes, such as milk-, meat- or fiber-related production, coat color, glucose pathway, oxidative stress response, size, and circadian clock differences. Our results confirm previous findings in other species on adaptation to extreme environments and human purposes and provide new genes that could explain some of the differences between goat breeds according to their geographical distribution and adaptation to different environments. CONCLUSIONS: These analyses of signatures of selection provide a comprehensive first picture of the global domestication process and adaptation of goat breeds and highlight possible genes that may have contributed to the differentiation of this species worldwide.


Assuntos
Aclimatação , Domesticação , Cabras/genética , Seleção Genética , Animais , Cruzamento/métodos , Variação Genética , Genoma , Genótipo , Cabras/fisiologia , Fenótipo , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA
8.
J Dairy Sci ; 101(6): 5214-5226, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29573797

RESUMO

Type traits and mammary health traits are important to dairy ruminant breeding because they influence animal health, milking ability, and longevity, as well as the economic sustainability of farms. The availability of the genomic sequence and a single nucleotide polymorphism chip in goats has opened up new fields of investigation to better understand the genes and mechanisms that underlie such complex traits and to be able to select them. Our objective was to perform a genome-wide association study in dairy goats for 11 type traits and somatic cell count (SCC) as proxies for mastitis resistance. A genome-wide association study was implemented using a daughter design composed of 1,941 Alpine and Saanen goats sired by 20 artificial insemination bucks, genotyped with the Illumina GoatSNP50 BeadChip (Illumina Inc., San Diego, CA). This association study was based on both linkage analyses and linkage disequilibrium using QTLmap software (http://dga7.jouy.inra.fr/qtlmap/) interval mapping was performed with the likelihood ratio test using linear regressions. Breeds were analyzed together and separately. The study highlighted 37 chromosome-wide significant quantitative trait loci (QTL) with linkage analyses and 222 genome-wide significant QTL for linkage disequilibrium, for type and SCC traits in dairy goats. Genomic control of those traits was mostly polygenic and breed-specific, suggesting that within-breed selection would be favored for those traits. Of note, Capra hircus autosome (CHI) 19 appeared to be highly enriched in single nucleotide polymorphisms associated with type and SCC, with 2 highly significant regions in the Saanen breed. One region (33-42 Mb) was significantly associated with SCC and includes candidate genes associated with response to intramammary infections (RARA, STAT3, STAT5A, and STAT5B). Another region of the CHI 19 (24.5-27 Mb) exhibited an adverse pleiotropic effect on milk production (milk, fat yield, and protein yield) and udder traits (udder floor position and rear udder attachment) that agreed with the negative genetic correlations that exist between those 2 groups of traits. These QTL were not found in the Alpine breed. In Alpine, the 2 most significant regions were associated with chest depth on CHI 6 (45.8-46.0 Mb) and CHI 8 (80.7-81.1 Mb). These results will be helpful for goat selection in the future and could lead to identification of causal mutations.


Assuntos
Cruzamento , Indústria de Laticínios/métodos , Estudo de Associação Genômica Ampla , Cabras/genética , Glândulas Mamárias Animais/fisiologia , Animais , Mapeamento Cromossômico , Feminino , Leite , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas
9.
Genet Sel Evol ; 49(1): 87, 2017 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-29191178

RESUMO

BACKGROUND: Pedigree-based management of genetic diversity in populations, e.g., using optimal contributions, involves computation of the [Formula: see text] type yielding elements (relationships) or functions (usually averages) of relationship matrices. For pedigree-based relationships [Formula: see text], a very efficient method exists. When all the individuals of interest are genotyped, genomic management can be addressed using the genomic relationship matrix [Formula: see text]; however, to date, the computational problem of efficiently computing [Formula: see text] has not been well studied. When some individuals of interest are not genotyped, genomic management should consider the relationship matrix [Formula: see text] that combines genotyped and ungenotyped individuals; however, direct computation of [Formula: see text] is computationally very demanding, because construction of a possibly huge matrix is required. Our work presents efficient ways of computing [Formula: see text] and [Formula: see text], with applications on real data from dairy sheep and dairy goat breeding schemes. RESULTS: For genomic relationships, an efficient indirect computation with quadratic instead of cubic cost is [Formula: see text], where Z is a matrix relating animals to genotypes. For the relationship matrix [Formula: see text], we propose an indirect method based on the difference between vectors [Formula: see text], which involves computation of [Formula: see text] and of products such as [Formula: see text] and [Formula: see text], where [Formula: see text] is a working vector derived from [Formula: see text]. The latter computation is the most demanding but can be done using sparse Cholesky decompositions of matrix [Formula: see text], which allows handling very large genomic and pedigree data files. Studies based on simulations reported in the literature show that the trends of average relationships in [Formula: see text] and [Formula: see text] differ as genomic selection proceeds. When selection is based on genomic relationships but management is based on pedigree data, the true genetic diversity is overestimated. However, our tests on real data from sheep and goat obtained before genomic selection started do not show this. CONCLUSIONS: We present efficient methods to compute elements and statistics of the genomic relationships [Formula: see text] and of matrix [Formula: see text] that combines ungenotyped and genotyped individuals. These methods should be useful to monitor and handle genomic diversity.


Assuntos
Variação Genética , Genômica/métodos , Genômica/estatística & dados numéricos , Genótipo , Modelos Genéticos , Criação de Animais Domésticos/métodos , Animais , Cruzamento , Genoma , Cabras/genética , Ovinos/genética
10.
J Dairy Sci ; 99(11): 8891-8900, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27544860

RESUMO

This paper reports a quantitative genetics and genomic analysis of undesired presence of supernumerary teats (SNT) in goats. Supernumerary teats are a problem in goat breeding as they can considerably impede machine milking efficiency, leading to increased milking time and injury. This phenotype has routinely been recorded for the past 15 yr in French Alpine and Saanen goats. Around 4% of the females had been assigned the SNT phenotype and consequently could not be included in the breeding program as elite animals. The heritability of this binary trait, estimated by applying linear logistic polygenic models to 32,908 Alpine and 23,217 Saanen females, was 0.40 and 0.44, respectively. A genome-wide association study was implemented using a daughter design composed of 810 Saanen goats sired by 9 artificial insemination bucks and 1,185 Alpine goats sired by 11 bucks, genotyped with the goatSNP50 chip (Illumina Inc., San Diego, CA). This association study was based on logistic polygenic models, one with separately taken single nucleotide polymorphisms and the other with haplotypes as fixed effects. The 2 breeds were analyzed together and separately. No region was found to be significant at the genome level, but 17 regions on 10 chromosomes were significant at the chromosome level. These signals were always only slightly above the chromosome significance threshold and only a few of them overlapped across analyses. No evidence of segregation of a major gene in our Saanen and Alpine populations was observed, suggesting that SNT presence is inherited in a polygenic fashion. This conclusion regarding SNT determinism agrees with recent association analyses in cattle, and one locus was even found in an orthologous region. The possibility of applying markers-based selection on the SNT trait is therefore unlikely, but, as this trait is heritable and routinely recorded, it could be managed by attributing a dedicated estimated breeding value.


Assuntos
Estudo de Associação Genômica Ampla , Cabras/genética , Animais , Cruzamento , Bovinos , Mamilos
11.
Genet Sel Evol ; 47: 48, 2015 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-26080856

RESUMO

BACKGROUND: From domestication to the current pattern of differentiation, domestic species have been influenced by reticulate evolution with multiple events of migration, introgression, and isolation; this has resulted in a very large number of breeds. In order to manage these breeds and their genetic diversity, one must know the current genetic structure of the populations and the relationships among these. This paper presents the results of a genetic diversity analysis on an almost exhaustive sample of the sheep breeds reared in France. Molecular characterization was performed with a set of 21 microsatellite markers on a collection of 49 breeds that include five breed types: meat, hardy meat, dairy, high prolificacy and patrimonial breeds. RESULTS: Values of expected heterozygosity ranged from 0.48 to 0.76 depending on the breed, with specialized meat breeds exhibiting the lowest values. Neighbor-Net, multidimensional analysis or clustering approaches revealed a clear differentiation of the meat breeds compared to the other breed types. Moreover, the group that clustered meat breeds included all the breeds that originated from the United Kingdom (UK) and those that originated from crossbreeding between UK breeds and French local breeds. We also highlighted old genetic introgression events that were related to the diffusion of Merino rams to improve wool production. As a result of these introgression events, especially that regarding the UK breeds, the breeds that were clustered in the 'meat type cluster' exhibited the lowest contribution to total diversity. That means that similar allelic combinations could be observed in different breeds of this group. CONCLUSIONS: The genetic differentiation pattern of the sheep breeds reared in France results from a combination of factors, i.e. geographical origin, historic gene flow, and breed use. The Merino influence is weaker than that of UK breeds, which is consistent with how sheep use changed radically at the end of 19(th) century when wool-producing animals (Merino-like) were replaced by meat-producing breeds. These results are highly relevant to monitor and manage the genetic diversity of sheep and can be used to set priorities in conservation programs when needed.


Assuntos
Variação Genética , Seleção Artificial/genética , Ovinos/genética , Animais , França , Técnicas de Genotipagem , Repetições de Microssatélites , Filogeografia , Locos de Características Quantitativas , Seleção Genética , Reino Unido
13.
BMC Genet ; 12: 25, 2011 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-21306617

RESUMO

BACKGROUND: Current research on quantitative genetics has provided efficient guidelines for the sustainable management of selected populations: genetic gain is maximized while the loss of genetic diversity is maintained at a reasonable rate. However, actual selection schemes are complex, especially for large domestic species, and they have to take into account many operational constraints. This paper deals with the actual selection of dairy goats where the challenge is to optimize diffusion of buck semen on the field. Three objectives are considered simultaneously: i) natural service buck replacement (NSR); ii) goat replacement (GR); iii) semen distribution of young bucks to be progeny-tested. An appropriate optimization method is developed, which involves five analytical steps. Solutions are obtained by simulated annealing and the corresponding algorithms are presented in detail. RESULTS: The whole procedure was tested on two French goat populations (Alpine and Saanen breeds) and the results presented in the abstract were based on the average of the two breeds. The procedure induced an immediate acceleration of genetic gain in comparison with the current annual genetic gain (0.15 genetic standard deviation unit), as shown by two facts. First, the genetic level of replacement natural service (NS) bucks was predicted, 1.5 years ahead at the moment of reproduction, to be equivalent to that of the progeny-tested bucks in service, born from the current breeding scheme. Second, the genetic level of replacement goats was much higher than that of their dams (0.86 unit), which represented 6 years of selection, although dams were only 3 years older than their replacement daughters. This improved genetic gain could be achieved while decreasing inbreeding coefficients substantially. Inbreeding coefficients (%) of NS bucks was lower than that of the progeny-tested bucks (-0.17). Goats were also less inbred than their dams (-0.67). CONCLUSIONS: It was possible to account for complex operational constraints while developing goat selection schemes, both efficient and sustainable. Therefore, the recommended selection and mating decisions might receive attention from goat breeders using both AI and NS.


Assuntos
Cruzamento/métodos , Variação Genética , Cabras/genética , Sêmen , Animais , Indústria de Laticínios , Masculino
14.
Sci Rep ; 8(1): 4060, 2018 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-29497092

RESUMO

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.

15.
PLoS One ; 12(10): e0186029, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28982168

RESUMO

[This corrects the article DOI: 10.1371/journal.pone.0152426.].

16.
Sci Rep ; 7(1): 1872, 2017 05 12.
Artigo em Inglês | MEDLINE | ID: mdl-28500343

RESUMO

The quantity of milk and milk fat and proteins are particularly important traits in dairy livestock. However, little is known about the regions of the genome that influence these traits in goats. We conducted a genome wide association study in French goats and identified 109 regions associated with dairy traits. For a major region on chromosome 14 closely associated with fat content, the Diacylglycerol O-Acyltransferase 1 (DGAT1) gene turned out to be a functional and positional candidate gene. The caprine reference sequence of this gene was completed and 29 polymorphisms were found in the gene sequence, including two novel exonic mutations: R251L and R396W, leading to substitutions in the protein sequence. The R251L mutation was found in the Saanen breed at a frequency of 3.5% and the R396W mutation both in the Saanen and Alpine breeds at a frequencies of 13% and 7% respectively. The R396W mutation explained 46% of the genetic variance of the trait, and the R251L mutation 6%. Both mutations were associated with a notable decrease in milk fat content. Their causality was then demonstrated by a functional test. These results provide new knowledge on the genetic basis of milk synthesis and will help improve the management of the French dairy goat breeding program.

17.
PLoS One ; 11(3): e0152426, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27030980

RESUMO

This paper reports a quantitative genetics and genomic analysis of undesirable coat color patterns in goats. Two undesirable coat colors have routinely been recorded for the past 15 years in French Saanen goats. One fifth of Saanen females have been phenotyped "pink" (8.0%) or "pink neck" (11.5%) and consequently have not been included in the breeding program as elite animals. Heritability of the binary "pink" and "pink neck" phenotype, estimated from 103,443 females was 0.26 for "pink" and 0.21 for "pink neck". Genome wide association studies (using haplotypes or single SNPs) were implemented using a daughter design of 810 Saanen goats sired by 9 Artificial Insemination bucks genotyped with the goatSNP50 chip. A highly significant signal (-log10pvalue = 10.2) was associated with the "pink neck" phenotype on chromosome 11, suggesting the presence of a major gene. Highly significant signals for the "pink" phenotype were found on chromosomes 5 and 13 (-log10p values of 7.2 and, 7.7 respectively). The most significant SNP on chromosome 13 was in the ASIP gene region, well known for its association with coat color phenotypes. Nine significant signals were also found for both traits. The highest signal for each trait was detected by both single SNP and haplotype approaches, whereas the smaller signals were not consistently detected by the two methods. Altogether these results demonstrated a strong genetic control of the "pink" and "pink neck" phenotypes in French Saanen goats suggesting that SNP information could be used to identify and remove undesired colored animals from the breeding program.


Assuntos
Cabras/genética , Cor de Cabelo/genética , Animais , Cruzamento , Feminino , Loci Gênicos , Estudo de Associação Genômica Ampla , Fenótipo , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA
18.
PLoS One ; 9(1): e86227, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24465974

RESUMO

The success of Genome Wide Association Studies in the discovery of sequence variation linked to complex traits in humans has increased interest in high throughput SNP genotyping assays in livestock species. Primary goals are QTL detection and genomic selection. The purpose here was design of a 50-60,000 SNP chip for goats. The success of a moderate density SNP assay depends on reliable bioinformatic SNP detection procedures, the technological success rate of the SNP design, even spacing of SNPs on the genome and selection of Minor Allele Frequencies (MAF) suitable to use in diverse breeds. Through the federation of three SNP discovery projects consolidated as the International Goat Genome Consortium, we have identified approximately twelve million high quality SNP variants in the goat genome stored in a database together with their biological and technical characteristics. These SNPs were identified within and between six breeds (meat, milk and mixed): Alpine, Boer, Creole, Katjang, Saanen and Savanna, comprising a total of 97 animals. Whole genome and Reduced Representation Library sequences were aligned on >10 kb scaffolds of the de novo goat genome assembly. The 60,000 selected SNPs, evenly spaced on the goat genome, were submitted for oligo manufacturing (Illumina, Inc) and published in dbSNP along with flanking sequences and map position on goat assemblies (i.e. scaffolds and pseudo-chromosomes), sheep genome V2 and cattle UMD3.1 assembly. Ten breeds were then used to validate the SNP content and 52,295 loci could be successfully genotyped and used to generate a final cluster file. The combined strategy of using mainly whole genome Next Generation Sequencing and mapping on a contig genome assembly, complemented with Illumina design tools proved to be efficient in producing this GoatSNP50 chip. Advances in use of molecular markers are expected to accelerate goat genomic studies in coming years.


Assuntos
Cabras/genética , Análise de Sequência com Séries de Oligonucleotídeos , Polimorfismo de Nucleotídeo Único , Animais , Cruzamento , Genoma , Genômica , Cabras/classificação , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Reprodutibilidade dos Testes
20.
Genet Sel Evol ; 40(6): 663-80, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18990357

RESUMO

Effective selection on the PrP gene has been implemented since October 2001 in all French sheep breeds. After four years, the ARR "resistant" allele frequency increased by about 35% in young males. The aim of this study was to evaluate the impact of this strong selection on genetic variability. It is focussed on four French sheep breeds and based on the comparison of two groups of 94 animals within each breed: the first group of animals was born before the selection began, and the second, 3-4 years later. Genetic variability was assessed using genealogical and molecular data (29 microsatellite markers). The expected loss of genetic variability on the PrP gene was confirmed. Moreover, among the five markers located in the PrP region, only the three closest ones were affected. The evolution of the number of alleles, heterozygote deficiency within population, expected heterozygosity and the Reynolds distances agreed with the criteria from pedigree and pointed out that neutral genetic variability was not much affected. This trend depended on breed, i.e. on their initial states (population size, PrP frequencies) and on the selection strategies for improving scrapie resistance while carrying out selection for production traits.


Assuntos
Variação Genética , Proteínas PrPSc/genética , Scrapie/genética , Seleção Genética , Carneiro Doméstico/genética , Animais , Repetições de Microssatélites , Modelos Genéticos , Linhagem , Polimorfismo Genético , Scrapie/prevenção & controle
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