An association analysis for 14 candidate genes mapping to meat quality quantitative trait loci in a Duroc pig population reveals that the ATP1A2 genotype is highly associated with muscle electric conductivity

In previous GWAS carried out in a Duroc commercial line (Lipgen population), we detected on pig chromosomes 3, 4 and 14 several QTL for gluteus medius muscle redness (GM a*), electric conductivity in the longissimus dorsi muscle (LD CE) and vaccenic acid content in the LD muscle (LD C18:1 n − 7), respectively. We have genotyped, in the Lipgen population, 19 SNPs mapping to 14 genes located within these QTL. Subsequently, association analyses have been performed. After correction for multiple testing, two SNPs in the TGFBRAP1 (rs321173745) and SELENOI (rs330820437) genes were associated with GM a*, whereas ACADSB (rs81449951) and GPR26 (rs343087568) genotypes displayed significant associations with LD vaccenic content. Moreover, the polymorphisms located at the ATP1A2 (rs344748241), ATP8B2 (rs81382410) and CREB3L4 (rs321278469 and rs330133789) genes showed significant associations with LD CE. We made a second round of association analyses including the SNPs mentioned above as well as other SNPs located in the chromosomes to which they map. After performing a correction for multiple testing, the only association that remained significant at the chromosome‐wide level was that between the ATP1A2 genotype and LD CE. From a functional point of view, this association is meaningful because this locus encodes a subunit of the Na+/K+‐ATPase responsible for maintaining an electrochemical gradient across the plasma membrane.info:eu-repo/semantics/acceptedVersio

Detection of homozygous genotypes for a putatively lethal recessive mutation in the porcine argininosuccinate synthase 1 (ASS1) gene

The sequencing of the pig genome revealed the existence of homozygous individuals for a nonsense mutation in the argininosuccinate synthase 1 (ASS1) gene (rs81212146, c.944T>A, L315X). Paradoxically, an AA homozygous genotype for this polymorphism is expected to abolish the function of the ASS1 enzyme that participates in the urea cycle, leading to citrullinemia, hyperammonemia, coma and death. Sequencing of five Duroc boars that sired a population of 350 Duroc barrows revealed the segregation of the c.944T>A polymorphism, so we aimed to investigate its phenotypic consequences. Genotyping of this mutation in the 350 Duroc barrows revealed the existence of seven individuals homozygous (AA) for the nonsense mutation. These AA pigs had a normal weight despite the fact that mild citrullinemia often involves impaired growth. Sequencing of the region surrounding the mutation in TT, TA and AA individuals revealed that the A substitution in the second position of the codon (c.944T>A) is in complete linkage disequilibrium with a C replacement (c.943T>C) in the first position of the codon. This second mutation would compensate for the potentially damaging effect of the c.944T>A replacement. In fact, this is the most probable reason why pigs with homozygous AA genotypes at the 944 site of the ASS1 coding region are alive. Our results illustrate the complexities of predicting the consequences of nonsense mutations on gene function and phenotypes, not only because of annotation issues but also owing to the existence of genetic mechanisms that sometimes limit the penetrance of highly harmful mutations.info:eu-repo/semantics/acceptedVersio

Genome-wide patterns of homozygosity provide clues about the population history and adaptation of goats

Background: Patterns of homozygosity can be influenced by several factors, such as demography, recombination, and selection. Using the goat SNP50 BeadChip, we genotyped 3171 goats belonging to 117 populations with a worldwide distribution. Our objectives were to characterize the number and length of runs of homozygosity (ROH) and to detect ROH hotspots in order to gain new insights into the consequences of neutral and selection processes on the genome-wide homozygosity patterns of goats. Results: The proportion of the goat genome covered by ROH is, in general, less than 15% with an inverse relationship between ROH length and frequency i.e. short ROH (< 3 Mb) are the most frequent ones. Our data also indicate that ~ 60% of the breeds display low F ROH coefficients (< 0.10), while ~ 30 and ~ 10% of the goat populations show moderate (0.10 < F ROH < 0.20) or high (> 0.20) F ROH values. For populations from Asia, the average number of ROH is smaller and their coverage is lower in goats from the Near East than in goats from Central Asia, which is consistent with the role of the Fertile Crescent as the primary centre of goat domestication. We also observed that local breeds with small population sizes tend to have a larger fraction of the genome covered by ROH compared to breeds with tens or hundreds of thousands of individuals. Five regions on three goat chromosomes i.e. 11, 12 and 18, contain ROH hotspots that overlap with signatures of selection. Conclusions: Patterns of homozygosity (average number of ROH of 77 and genome coverage of 248 Mb; F ROH < 0.15) are similar in goats from different geographic areas. The increased homozygosity in local breeds is the consequence of their small population size and geographic isolation as well as of founder effects and recent inbreeding. The existence of three ROH hotspots that co-localize with signatures of selection demonstrates that selection has also played an important role in increasing the homozygosity of specific regions in the goat genome. Finally, most of the goat breeds analysed in this work display low levels of homozygosity, which is favourable for their genetic management and viability

Efecto del Locus CSN3 sobre la composición de la leche de cabra de raza murciano-granadina

CICYT AGL2002-04304-C03-01-02- 03 GA

The demographic history and adaptation of Canarian goat breeds to environmental conditions through the use of genome-wide SNP data

Background: The presence of goats in the Canary Islands dates back to the late 1st millennium BC, which coincides with the colonization by the Amazigh settlers. However, the exact geographic origin of Canarian goats is uncertain since the Amazigh peoples were distributed over a wide spatial range. Nowadays, three Canarian breeds (Palmera, Majorera and Tinerfeña) are officially recognized, along with two distinct South and North Tinerfeña ecotypes, with the South Tinerfeña and Majorera goats thriving in arid and dry semi-desertic environments and the Palmera and North Tinerfeña goats are adapted to humid and temperate areas that are influenced by trade winds. Genotypes for 224 Canarian goats were generated using the Illumina Goat single nucleotide polymorphism (SNP)50 BeadChip. By merging these data with the genotypes from 1007 individuals of African and Southern European ancestry, our aim was to ascertain the geographic origin of the Canarian goats and identify genes associated with adaptation to diverse environmental conditions. Results: The diversity indices of the Canarian breeds align with most of those of the analyzed local breeds from Africa and Europe, except for the Palmera goats that showed lower levels of genetic variation. The Canarian breeds demonstrate a significant genetic differentiation compared to other populations, which indicates a history of prolonged geographic isolation. Moreover, the phylogenetic reconstruction indicated that the ancestry of the Canarian goats is fundamentally North African rather than West African. The ADMIXTURE and the TreeMix analyses showed no evidence of gene flow between Canarian goats and other continental breeds. The analysis of runs of homozygosity (ROH) identified 13 ROH islands while the window-based FST method detected 25 genomic regions under selection. Major signals of selection were found on Capra hircus (CHI) chromosomes 6, 7, and 10 using various comparisons and methods. Conclusions: This genome-wide analysis sheds new light on the evolutionary history of the four breeds that inhabit the Canary Islands. Our findings suggest a North African origin of the Canarian goats. In addition, within the genomic regions highlighted by the ROH and FST approaches, several genes related to body size and heat tolerance were identified

Goat biodiversity in Spain

Goats are located predominantly in the dry Spain specially in Andalusia, Castilla-La Mancha, the Canary Islands, Murcia and Extremadura. In this paper we have analyzed 867 samples of 18 Spanish goat populations from different parts of the Iberian Peninsula (Azpi-Gorri, Blanca de Rasquera, Blanca Andaluza, Blanca Celtibérica, Florida, Malagueña, Murciano-Granadina, Negra Serrana, Payoya and Retinta) and the Balearic (Ibicenca, Mallorquina and Formentera goat) and Canarian Archipelagos (Ajuí, Majorera, Palmera, Tenerife North and Tenerife South). Twenty-three microsatellites have been amplified and the within-breed genetic variation has been calculated through the analysis of the mean number of alleles, heterozygosity and FIS The values of expected heterozygosity (He) per breed ranged from 0.524 to 0.721 in Palmera and Florida, respectively, while the observed heterozygosity (Ho) ranged between 0.515 and 0.705 in Palmera and Retinta, respectively. Goat genetic diversity in Spain is very high, with a mean number of alleles, expected and observed heterozigosities across the breeds of 7.04, 0.668 and 0.621, respectively.La especie caprina se localiza predominantemente en la España seca con gran protagonismo de Andalucía, Castilla-La Mancha, Canarias, Murcia y Extremadura. En este trabajo se analizan 867 muestras de 18 poblaciones caprinas españolas provenientes de diferentes zonas de la Península Ibérica (Azpi-Gorri, Blanca de Rasquera, Blanca Andaluza, Blanca Celtibérica, Florida, Malagueña, Murciano-Granadina, Negra Serrana, Payoya y Retinta) y de los archipiélagos Balear (Ibicenca, Mallorquina y cabra de Formentera) y Canario (Ajuí, Majorera, Palmera, Tinerfeña del Norte y Tinerfeña del Sur). Se amplifican 23 microsatélites de ADN y se determina la variación genética de las razas mediante el análisis del número medio de alelos, la heterocigosis, y el estadístico FIS. Los valores de heterocigosis esperada (He) oscilan entre 0,524 en la raza Palmera y 0,721 en la Florida mientras que la heterocigosis observada (Ho) fluctúa entre 0,515 en la Palmera y 0,705 en la Retinta. En España existe una diversidad genética caprina elevada con valores de número medio de alelos, heterocigosis esperada y observada para todas las razas de 7,04, 0,668 y 0,621 respectivamente

Short communication: An association analysis between one missense polymorphism at the SREBF1 gene and milk yield and composition traits in goats

Sterol regulatory element binding transcription factor 1 (SREBF1) regulates the expression of genes involved in the biosynthesis of fatty acids and cholesterol. Herewith, we have sequenced the near-complete coding region and part of the 3?UTR of the goat SREBF1 gene. In doing so, we have detected a missense c.353CT polymorphism causing a proline to leucine substitution at position 118 (P118L). An association analysis with milk composition traits recorded in MurcianoGranadina goats only revealed a statistical tendency linking SREBF1 genotype and milk omega-3 fatty acid content. The lack of significant associations suggests that the P118L substitution does not involve a functional change.Le facteur de transcription de´nomme´ Sterol regulatory element binding transcription factor 1 (SREBF1) re´gule l’expression des ge`nes implique´s dans la biosynthe`se des acides gras et du choleste´rol. Dans cette e´tude, nous avons se´quence´ la quasi-totalite´ de la re´gion codante et une partie du la re´gion 3?UTR du ge`ne SREBF1 de la che`vre. Ce travail, nous a permis d’identifier un polymorphisme non-synonyme c.353CT causant la substitution d’une Proline en Leucine a` la position 118. L’e´tude d’association avec la composition du lait enregistre´e en che`vres Murciano-Granadina, a re´ve´le´ seulement une tendance statistique reliant SREBF1 ge´notype et l’acide gras ome´ga-3 du lait. L’absence d’associations significatives sugge`re que la substitution P118L n’implique pas un changement fonctionnel

Detecting the footprint of selection on the genomes of Murciano-Granadina goats

Artificial selection is one of the major forces modifying the genetic composition of livestock populations. Identifying genes under selection could be useful to elucidate their impact on phenotypic variation. We aimed to identify genomic regions targeted by selection for dairy and pigmentation traits in Murciano-Granadina goats. Performance of a selection scan based on the integrated haplotype score test in a population of 1183 Murciano-Granadina goats resulted in the identification of 77 candidate genomic regions/SNPs. The most significant selective sweeps mapped to chromosomes 1 (69.86 Mb), 4 (41.80–49.95 Mb), 11 (65.74 Mb), 12 (31.24 and 52.51 Mb), 17 (34.76–37.67 Mb), 22 (31.75 Mb), and 26 (26.69–31.05 Mb). By using previously generated RNA-Seq data, we built a catalogue of 6414 genes that are differentially expressed across goat lactation (i.e. 78 days post-partum, early lactation; 216 days post-partum, late lactation; 285 days post-partum, dry period). Interestingly, 183 of these genes mapped to selective sweeps and several of them display functions related with lipid, protein, and carbohydrate metabolism, insulin signaling, cell proliferation, as well as mammary development and involution. Of particular interest are the CSN3 and CSN1S2 genes, which encode two major milk proteins. Additionally, we found three pigmentation genes (GLI3, MC1R, and MITF) co-localizing with selective sweeps. Performance of a genome-wide association study and Sanger sequencing and TaqMan genotyping experiments revealed that the c.801C>G (p.Cys267Trp) polymorphism in the melanocortin 1 receptor (MC1R) gene is the main determinant of the black (GG or GC genotypes) and brown (CC genotypes) colorations of Murciano-Granadina goats

Patterns of homozygosity in insular and continental goat breeds

Background: Genetic isolation of breeds may result in a significant loss of diversity and have consequences on health and performance. In this study, we examined the effect of geographic isolation on caprine genetic diversity patterns by genotyping 480 individuals from 25 European and African breeds with the Goat SNP50 BeadChip and comparing patterns of homozygosity of insular and nearby continental breeds. Results: Among the breeds analysed, number and total length of ROH varied considerably and depending on breeds, ROH could cover a substantial fraction of the genome (up to 1.6 Gb in Icelandic goats). When compared with their continental counterparts, goats from Iceland, Madagascar, La Palma and Ireland (Bilberry and Arran) displayed a significant increase in ROH coverage, ROH number and F ROH values (P value < 0.05). Goats from Mediterranean islands represent a more complex case because certain populations displayed a significantly increased level of homozygosity (e.g. Girgentana) and others did not (e.g. Corse and Sarda). Correlations of number and total length of ROH for insular goat populations with the distance between islands and the nearest continental locations revealed an effect of extremely long distances on the patterns of homozygosity. Conclusions: These results indicate that the effects of insularization on the patterns of homozygosity are variable. Goats raised in Madagascar, Iceland, Ireland (Bilberry and Arran) and La Palma, show high levels of homozygosity, whereas those bred in Mediterranean islands display patterns of homozygosity that are similar to those found in continental populations. These results indicate that the diversity of insular goat populations is modulated by multiple factors such as geographic distribution, population size, demographic history, trading and breed management

A genome-wide association analysis for body, udder, and leg conformation traits recorded in Murciano-Granadina goats

Morphological traits are of great importance to dairy goat production given their effect on phenotypes of economic interest. However, their underlying genomic architecture has not yet been extensively characterized. Herein, we aimed to identify genomic regions associated with body, udder, and leg conformation traits recorded in 825 Murciano-Granadina goats. We genotyped this resource population using the GoatSNP50 BeadChip (Illumina Inc., San Diego, CA) and performed genome-wide association analyses using the GEMMA software. We found 2 genome-wide significant associations between markers rs268273468 [Capra hircus (CHI) 16:69617700] and rs268249346 (CHI 28:18321523) and medial suspensory ligament. In contrast, we did not detect any genome-wide significant associations for body and leg traits. Moreover, we found 12, 19, and 7 chromosome-wide significant associations for udder, body, and leg traits, respectively. Comparison of our data with previous studies revealed a low level of positional concordance between regions associated with morphological traits. In addition to technical factors, this lack of concordance could be due to a substantial level of genetic heterogeneity among breeds or to the strong polygenic background of morphological traits, which makes it difficult to detect genetic factors that have small phenotypic effects