Mastrangelo Salvatore, Di Gerlando Rosalia, Sardina Maria Teresa, Sutera Anna Maria, Moscarelli Angelo, Tolone Marco, Cortellari Matteo, Marletta Donata, Crepaldi Paola, Portolano Baldassare
Dipartimento Scienze Agrarie, Alimentari e Forestali, University of Palermo, Viale delle Scienze, 90128 Palermo, Italy.
Dipartimento Scienze Veterinarie, University of Messina, Polo Universitario dell'Annunziata, 98168 Messina, Italy.
Animals (Basel). 2021 May 23;11(6):1510. doi: 10.3390/ani11061510.
The application of genomic technologies has facilitated the assessment of genomic inbreeding based on single nucleotide polymorphisms (SNPs). In this study, we computed several runs of homozygosity (ROH) parameters to investigate the patterns of homozygosity using Illumina Goat SNP50 in five Italian local populations: Argentata dell'Etna (N = 48), Derivata di Siria (N = 32), Girgentana (N = 59), Maltese (N = 16) and Messinese (N = 22). The ROH results showed well-defined differences among the populations. A total of 3687 ROH segments >2 Mb were detected in the whole sample. The Argentata dell'Etna and Messinese were the populations with the lowest mean number of ROH and inbreeding coefficient values, which reflect admixture and gene flow. In the Girgentana, we identified an ROH pattern related with recent inbreeding that can endanger the viability of the breed due to reduced population size. The genomes of Derivata di Siria and Maltese breeds showed the presence of long ROH (>16 Mb) that could seriously impact the overall biological fitness of these breeds. Moreover, the results confirmed that ROH parameters are in agreement with the known demography of these populations and highlighted the different selection histories and breeding schemes of these goat populations. In the analysis of ROH islands, we detected harbored genes involved with important traits, such as for milk yield, reproduction, and immune response, and are consistent with the phenotypic traits of the studied goat populations. Finally, the results of this study can be used for implementing conservation programs for these local populations in order to avoid further loss of genetic diversity and to preserve the production and fitness traits. In view of this, the availability of genomic data is a fundamental resource.
基因组技术的应用促进了基于单核苷酸多态性(SNP)的基因组近亲繁殖评估。在本研究中,我们计算了几个纯合性片段(ROH)参数,以使用Illumina山羊SNP50芯片研究五个意大利本地山羊群体的纯合性模式,这些群体包括:埃特纳银山羊(N = 48)、叙利亚衍生山羊(N = 32)、吉尔根塔纳山羊(N = 59)、马耳他山羊(N = 16)和墨西拿山羊(N = 22)。ROH结果显示各群体之间存在明确差异。在整个样本中总共检测到3687个长度大于2 Mb的ROH片段。埃特纳银山羊和墨西拿山羊群体的ROH平均数量和近亲繁殖系数值最低,这反映了群体的混合和基因流动。在吉尔根塔纳山羊群体中,我们发现了一种与近期近亲繁殖相关的ROH模式,由于群体规模减小,这可能危及该品种的生存能力。叙利亚衍生山羊和马耳他山羊品种的基因组显示存在长ROH片段(>16 Mb),这可能严重影响这些品种的整体生物学适应性。此外,结果证实ROH参数与这些群体已知的人口统计学特征一致,并突出了这些山羊群体不同的选择历史和育种方案。在ROH岛分析中,我们检测到了与重要性状相关的基因,如产奶量、繁殖和免疫反应等,并且与所研究山羊群体的表型特征一致。最后,本研究结果可用于实施这些本地群体的保护计划,以避免遗传多样性的进一步丧失,并保护生产和适应性性状。鉴于此,基因组数据的可用性是一项基本资源。