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Purunã is a composite beef cattle breed, developed in Southern Brazil by crossing the Angus, Charolais, Canchim, and Caracu breeds. The goal of this study was to perform the first genetic characterization of the Purunã breed, based on both pedigree and genomic information. For this, 100 randomly selected animals were genotyped, and 11,205 animals born from 1997 to 2019 had pedigree information. The genetic analyses performed were principal component analysis, admixture, phylogenic tree, pedigree and genomic inbreeding, linkage disequilibrium (LD), effective population size (Ne), consistency of the gametic phase, runs of homozygosity (ROH), heterozygosity-enriched regions (HERs), and functional analyses of the ROH and HER regions identified. Our findings indicate that Purunã is more genetically related to the Charolais, Canchim, and Angus breeds than Caracu or Nellore. The levels of inbreeding were shown to be small based on all the metrics evaluated and ranged from -0.009 to 0.029. A low (-0.12-0.31) correlation of the pedigree-based inbreeding compared to all the genomic inbreeding coefficients evaluated was observed. The LD average was 0.031 (±0.0517), and the consistency of the gametic phase was shown to be low for all the breed pairs, ranging from 0.42 to 0.27 to the distance of 20 Mb. The Ne values based on pedigree and genomic information were 158 and 115, respectively. A total of 1,839 ROHs were found, and the majority of them are of small length (<4 Mb). An important homozygous region was identified on BTA5 with pathways related to behavioral traits (sensory perception, detection of stimulus, and others), as well as candidate genes related to heat tolerance (MY O 1A), feed conversion rate (RDH5), and reproduction (AMDHD1). A total of 1,799 HERs were identified in the Purunã breed with 92.3% of them classified within the 0.5-1 Mb length group, and 19 HER islands were identified in the autosomal genome. These HER islands harbor genes involved in growth pathways, carcass weight (SDCBP), meat and carcass quality (MT2A), and marbling deposition (CISH). Despite the genetic relationship between Purunã and the founder breeds, a multi-breed genomic evaluation is likely not feasible due to their population structure and low consistency of the gametic phase among them.

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BACKGROUND: A decline in the level of genetic diversity in livestock can result in reduced response to selection, greater incidence of genetic defects, and inbreeding depression. In this context, various metrics have been proposed to assess the level of genetic diversity in selected populations. Therefore, the main goals of this study were to: 1) investigate the population structure of 16 cattle populations from 15 different pure breeds or composite populations, which have been selected for different breeds goals; and, 2) identify and compare runs of homozygosity (ROH) and heterozygosity-enriched regions (HER) based on different single nucleotide polymorphism (SNP) panels and whole-genome sequence data (WGS), followed by functional genomic analyses. RESULTS: A total of 24,187 ROH were found across all cattle populations, with 55% classified in the 2-4 Mb size group. Fourteen homozygosity islands were found in five populations, where four ROH islands located on BTA1, BTA5, BTA16, and BTA19 overlapped between the Brahman (BRM) and Gyr (GIR) breeds. A functional analysis of the genes found in these islands revealed candidate genes known to play a role in the melanogenesis, prolactin signaling, and calcium signaling pathways. The correlations between inbreeding metrics ranged from 0.02 to 0.95, where the methods based on homozygous genotypes (FHOM), uniting of gametes (FUNI), and genotype additive variance (FGRM) showed strong correlations among them. All methods yielded low to moderate correlations with the inbreeding coefficients based on runs of homozygosity (FROH). For the HER, 3576 runs and 26 islands, distributed across all autosomal chromosomes, were found in regions containing genes mainly related to the immune system, indicating potential balancing selection. Although the analyses with WGS did not enable detection of the same island patterns, it unraveled novel regions not captured when using SNP panel data. CONCLUSIONS: The cattle populations that showed the largest amount of ROH and HER were Senepol (SEN) and Montana (MON), respectively. Overlapping ROH islands were identified between GIR and BRM breeds, indicating a possible historical connection between the populations. The distribution and pattern of ROH and HER are population specific, indicating that different breeds have experienced divergent selection processes or different genetic processes.

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This study aimed to identify inbreeding coefficient (F) estimators useful for improvement programs in a small Holstein population through the evaluation of different methodologies in the Mexican Holstein population. F was estimated as follows: (a) from pedigree information (Fped); (b) through runs of homozygosity (Froh); (c) from the number of observed and expected homozygotic SNP in the individuals (Fgeno); (d) through the genomic relationship matrix (Fmg). The study included information from 4277 animals with pedigree records and 100,806 SNP. The average and standard deviation values of F were 3.11 ± 2.30 for Fped, -0.02 ± 3.55 for Fgeno, 2.77 ± 0.71 for Froh and 3.03 ± 3.05 for Fmg. The correlations between coefficients varied from 0.30 between Fped and Froh, to 0.96 between Fgeno and Fmg. Differences in the level of inbreeding among the parent's country of origin were found regardless of the method used. The correlations among genomic inbreeding coefficients were high; however, they were low with Fped, so further research on this topic is required.

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Blanco Orejinegro (BON) cattle have 500 years of adaptation to the Colombian tropic, but little is known about their genetic history. Our aim was to estimate levels of linkage disequilibrium (LD), effective population size (Ne), genomic inbreeding for runs of homozygosity (FROH ), genomic relation matrix (FGRM ), excess of homozygotes (FHOM ) and pedigree information (FPEDCOMP ) and to characterize the runs of homozygosity (ROH), searching for selection signatures. A total of 419 BON animals were genotyped, 70 with a 150K chip and 349 with a 50K chip. Next, an imputation to 50K was performed, and, after editing, databases of 40K were obtained. The PLINK v1.90 and R programs were used to estimate LD, ROH, FROH and FHOM . The SNeP v1.1 program was used to obtain Ne, and PreGSf90 was used to elaborate the scaled G matrix. The MTDFNRM program was used to estimate FPEDCOMP . The LD mean as r2 at 1 Mb was 0.21 (r2  > 0.30 at a distance of 96.72kb), and Ne was 123 ± 1. A total of 7,652 homozygous segments were obtained, with a mean of 18.35 ± 0.55 ROH/animal. Most of the genome was covered by long ROHs (ROH>8 Mb  = 4.86%), indicating significant recent inbreeding. The average inbreeding coefficient for FPEDCOM , FGRM , FHOM and FROH was 4.41%, 4.18%, 5.58% and 6.78%, respectively. The highest correlation was observed between FHOM and FROH (0.95). ROH hotspots/islands were defined using the extreme values of a box plot that was generated, and correspond to QTLs related to milk yield (55.11%), external appearance (13.47%), production (13.30%), reproduction (8.15%), health (5.24%) and meat carcass (4.74%).

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Introducción: La consanguinidad continúa siendo un fenómeno universal, hoy día los matrimonios consanguíneos y su descendencia suponen aproximadamente el 10,4 por ciento de la población mundial; sus descendientes tienen una elevada probabilidad de padecer enfermedades mendelianas recesivas, así como enfermedades complejas de naturaleza multifactorial. Objetivos: Determinar el coeficiente de endogamia de la región y las principales afectaciones encontradas en la descendencia de matrimonios consanguíneos. Métodos: Se realizó una investigación descriptiva, aplicada y retrospectiva de corte transversal sobre coeficiente de endogamia en el Consejo Popular Paso Quemado, municipio Los Palacios, Pinar del Río, en el período comprendido entre mayo 2016 y febrero 2017. Resultados: Fueron identificados 11 matrimonios consanguíneos (1,96 por ciento), mayormente en área rural y entre primos hermanos. El coeficiente de endogamia medio fue 0,00115. Después de la década del 70 no se efectuaron matrimonios consanguíneos. Afectaciones como mortalidad infantil, enfermedades monogénicas raras, malformaciones congénitas, discapacidad intelectual leve y enfermedades comunes aparecieron con mayor frecuencia en la descendencia de primos hermanos. Conclusiones: En correspondencia con la apertura de nuevas oportunidades sociales, económicas y educativas en la región la consanguinidad no constituye hoy en día un problema de salud, no obstante 52,5 por ciento de la descendencia en consanguíneos resultó afectada, mayormente por enfermedades complejas. El estudio sienta las bases para establecer una estrategia de educación y promoción de salud a nivel comunitario(AU)

Introduction: Consanguinity continues to be a universal phenomenon. Nowadays, consanguineous marriages and their descendants are estimated at 10,4 percent of the world population; their descendants have a high probability of suffering recessive Mendelian diseases, as well as complex diseases of multifactorial nature. Objectives: To determine the inbreeding coefficient of the region and the main affectations found in offspring of consanguineous marriages. Methods: A descriptive, applied and retrospective cross-sectional research on the inbreeding coefficient was conducted at Paso Quemado Popular Council, Los Palacios Municipality, Pinar del Río, from May 2016 to February 2017. Results: We identified 11 consanguineous marriages (1.96 percent), mostly in rural areas and among first cousins. The average inbreeding coefficient was 0.00115. After the 70's, there was no occurrence of consanguineous marriages. Affectations such as infant mortality, rare monogenic diseases, congenital malformations, mild intellectual disability and common diseases appeared more frequently in the offspring of first cousins. Conclusions: In correspondence with the opening of new social, economic and educational opportunities in the region, consanguinity does not constitute a health problem nowadays; however, mostly complex diseases affected 52.5 percent of offspring in consanguineous couples. The study lays the foundations to establish a health education and promotion strategy at the community level(AU)

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The objective of this study was to evaluate inbreeding depression in Holstein cows in Brazil, considering their 305-day milk production (MP), age of first calving (AFC), and calving interval (CI). The effects of inbreeding depression on the traits were determined using four regression models (linear, quadratic, exponential, and Michaelis-Menten) about the errors generated by the animal model. The linear model was significant for CI, and the quadratic model was significant for CI and AFC. The Michaelis-Menten and exponential models were significant for MP, AFC, and CI. Inbreeding depression affected MP and CI. Cows with inbreeding coefficient of 15% produced approximately 260 kg less milk than non-inbred cows. A 1% increase in the inbreeding level resulted in an unfavorable increase of CI of 1.88 days. The quadratic and exponential models showed no variations for CI with increasing inbreeding level; however, the Michaelis-Menten model showed a positive effect of inbreeding on CI. Despite of the small number of inbred Holstein cows, the inbreeding negatively affected milk production and calving intervals. Therefore, breeders should monitor their cattle inbreeding levels. The Michaelis-Menten and exponential non-linear models are best suited to fit inbreeding data of Holstein cows.(AU)

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Neste trabalho, objetivou-se comparar três estimadores do coeficiente de endogamia, F, em uma população diplóide com dois alelos, utilizando-se dados de frequências alélicas em amostras de indíviduos, com diferentes tamanhos obtidas em populações simuladas, por meio do software SAS. Foi avaliado o estimador de F, obtido pela análise de variância de frequências alélicas, o estimador considerando o método dos momentos e o estimador pelo método da máxima verossimilhança. Os resultados encontrados para a média e variância os estimadores, a partir de 1000 estimativas de F, calculadas para cada tamanho de amostra, mostraram que os três estimadores são tendenciosos. Entretanto, de maneira geral, observou-se que o estimador considerando a análise de variância foi menos tendencioso e apresentou menor variância, quando o coeficiente de endogamia da população foi alto. Para tamanho de amostra superior a 50, os três estimadores tiveram comportamento semelhante, independente da frequência alélica e da endogamia da população.

The present work evaluated the properties of three estimators of the inbreeding coefficient, F, in a diploid population with two alleles, using data of gene frequencies in individuals from random samples obtained from populations simulated through the SAS. We evaluated the estimators of F obtained by variance analysis of allelic frequencies, obtained by moment method, and estimator obtained by maximum likelihood method. The analysis of the means and variances of the estimators, obtained from 1000 estimates of F, calculated for each sample size, demonstrated that the three estimators were biased. However, it was observed that the estimator obtained from univariate analysis was less biased and presented smaller variance, when the inbreeding coefficient in the population was elevated, while for populations with low inbreeding, the variance of the estimator obtained by the multivariate analysis was smaller.

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The population structure of the registered Tabapuã cattle in Brazil was described. Descriptive statistics of the distribution of the number of progeny, the generation interval, F-statistics, effective number of founders, ancestors, reminiscent genomes and effective population size were estimated using pedigree records from registered animals from 1971 to 1998. In the last period studied (1994-1998), 37,778 animals, 18,736 males and 19,042 females from 136 breeders were registered. The generations intervals calculated in each of the four periods 1979-1983, 1984-1988, 1989-1993 and 1994-1998 were, respectively, 6.26, 7.18, 7.68 and 7.56 yr for parent-progeny and 6.18, 6.43, 6.99 and 7.27 yr for parent to parent. The effective size of the population, founders, ancestors and reminiscent genomes in each of these periods were respectively: 378, 218, 213 and 181; 131, 254, 202 and 163; 73, 150, 119 and 94; 55, 112, 78 and 61.

Descreveu-se a estrutura da população do rebanho Tabapuã registrado no Brasil. Foram geradas estatísticas descritivas da distribuição do número de progênies e estimados o intervalo de gerações, estatísticas de F, número efetivo de fundadores, de ancestrais e de genomas remanescentes, além do tamanho efetivo da população, usando o registro genealógico de animais nascidos entre 1971-1998. Entre 1994 e 1998 foram registrados 37.778 animais, 18.736 machos e 19.042 fêmeas, pertencentes a 136 criadores. As médias dos intervalos de gerações estimadas para os períodos de 1979-1983, 1984-1988, 1989-1993 e 1994-1998 foram, respectivamente, 6,26; 7,18; 7,68 e 7,56 anos para pais-filhos e 6,18; 6,43; 6,99 e 7,27 para pais-pais. O tamanho efetivo da população e o número efetivo de fundadores, de ancestrais e de genomas remanescentes em cada um dos períodos foram, respectivamente, 378, 218, 213 e 181; 131, 254, 202 e 163; 73, 150, 119 e 94 e 55, 112, 78 e 61.