Demographic assessment of the Dalmatian dog - effective population size, linkage disequilibrium and inbreeding coefficients.

Canine medicine and genetics Pub Date : 2020-03-26 eCollection Date: 2020-01-01 DOI:10.1186/s40575-020-00082-y
Danae Vasiliadis, Julia Metzger, Ottmar Distl
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引用次数: 4

Abstract

Background: The calculation of demographic measures is a useful tool for evaluating the genomic architecture of dog breeds and enables ranking dog breeds in terms of genetic diversity. To achieve this for the German Dalmatian dog population, 307 purebred animals of this breed were genotyped on the Illumina Canine high density BeadChip. The analysis of pedigree-based inbreeding was performed based on a pedigree with 25,761 dogs including the genotyped dogs.

Results: The effective population size derived from squared correlation coefficients between SNP alleles (r 2) was 69. The maximum value of r 2 was 0.56, resulting in a 50% decay value of 0.28 at a marker distance of 37.5 kb. The effective population size calculated from pedigree data using individual increase in inbreeding over equivalent generations was 116. The pedigree inbreeding coefficient was 0.026. The genomic inbreeding coefficient based on the length of runs of homozygosity (ROH) was calculated for seven length categories of ROHs, and ranged from 0.08 to 0.28. The fixation coefficients FIS_PED and FIS_GENO were at 0.017 and 0.004. PANTHER statistical overrepresentation analysis of genes located in consensus ROHs revealed highly underrepresented biological processes in 50% of the investigated dogs. One of those is the 0.28 fold enriched "immune response", which might be associated to the high prevalence of allergic dermatitis in the breed. Candidate genes for congenital sensorineural deafness (CCSD, a highly prevalent disease in the Dalmatian) were discovered in consensus ROHs.

Conclusions: The fast decay of r 2 and the moderate inbreeding coefficients indicate that the German Dalmatian dog population is rather diverse. Pedigree- and genomic-based inbreeding measures were highly correlated and therefore prove good reliability for the given population. Analyses of consensus ROHs with genes coding for deafness and other breed-defining traits, such as hyperuricosuria, indicate that those ROH became fixed in the Dalmatian population about 500 years ago. In case of the Dalmatian dog, a ROH of 40 SNPs length is enough to investigate signatures of selection (e.g. the ROH with the fixed hyperuricosuria mutation) as far back as the breed formation point approximately 500 years ago.

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达尔马提亚犬的人口统计评估——有效种群大小、连锁不平衡和近交系数。
背景:人口统计学测量的计算是评估犬种基因组结构的有用工具,并可以根据遗传多样性对犬种进行排名。为了实现这一目标,307只纯种德国达尔马提亚犬在Illumina犬高密度头芯片上进行了基因分型。对包括基因型犬在内的25,761只犬的家系进行了基于家系的近交分析。结果:SNP等位基因相关系数平方(r2)得到的有效群体大小为69。r2的最大值为0.56,在标记距离为37.5 kb时,衰减值为0.28,为50%。利用近交个体增加的系谱数据计算出的有效群体大小为116。家系近交系数为0.026。计算了7种长度类型ROHs的基因组近亲繁殖系数(ROH),其范围为0.08 ~ 0.28。固定系数FIS_PED和FIS_GENO分别为0.017和0.004。PANTHER统计过度代表性分析位于共识ROHs的基因显示,50%的被调查犬的生物过程高度代表性不足。其中之一是0.28倍的“免疫反应”,这可能与该品种过敏性皮炎的高患病率有关。在一致的ROHs中发现了先天性感音神经性耳聋(CCSD,一种在达尔马提亚高度流行的疾病)的候选基因。结论:r 2衰减快,近交系数适中,表明德国达尔马提亚犬种群具有一定的多样性。基于家系和基因组的近交测量是高度相关的,因此对给定群体证明了良好的可靠性。对具有编码耳聋和其他品种特征(如高尿酸血症)基因的一致ROHs的分析表明,这些ROH在大约500年前就在达尔马提亚人群中固定下来了。以达尔马提亚犬为例,40个snp长度的ROH足以研究大约500年前品种形成点的选择特征(例如具有固定高尿酸突变的ROH)。
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