Abstract

In the present study, GeneSeek GGP-LDv4 33k single nucleotide polymorphism chip was used to detect runs of homozygosity (ROH) in eight Italian beef cattle breeds, six breeds with distribution limited to Tuscany (Calvana, Mucca Pisana, Pontremolese) or Sardinia (Sarda, Sardo Bruna and Sardo Modicana) and two cosmopolitan breeds (Charolais and Limousine). ROH detection analyses were used to estimate autozygosity and inbreeding and to identify genomic regions with high frequency of ROH, which might reflect selection signatures. Comparative analysis among breeds revealed differences in length and distribution of ROH and inbreeding levels. The Charolais, Limousine, Sarda, and Sardo Bruna breeds were found to have a high frequency of short ROH (~ 15.000); Calvana and Mucca Pisana presented also runs longer than 16 Mbp. The highest level of average genomic inbreeding was observed in Tuscan breeds, around 0.3, while Sardinian and cosmopolitan breeds showed values around 0.2. The population structure and genetic distances were analyzed through principal component and multidimensional scaling analyses, and resulted in a clear separation among the breeds, with clusters related to productive purposes. The frequency of ROH occurrence revealed eight breed-specific genomic regions where genes of potential selective and conservative interest are located (e.g. MYOG, CHI3L1, CHIT1 (BTA16), TIMELESS, APOF, OR10P1, OR6C4, OR2AP1, OR6C2, OR6C68, CACNG2 (BTA5), COL5A2 and COL3A1 (BTA2)). In all breeds, we found the largest proportion of homozygous by descent segments to be those that represent inbreeding events that occurred around 32 generations ago, with Tuscan breeds also having a significant proportion of segments relating to more recent inbreeding.

Highlights

  • Runs of homozygosity (ROH) consist of contiguous regions of the genome where an individual is homozygous in all sites [1]

  • CAL had an intermediate value (2,968–11.40%) while Mucca Pisana (MUP), Sardo Bruna (SAB), Sardo Modicana (SAM) and SAR had less than 2,000 monomorphic single nucleotide polymorphism (SNP), which maintained lower than the 8% of the total amount of them

  • MUP and SAB presented numbers close to 2,000 while SAM and SAR had the lowest values of monomorphic SNPs (1,663 and 1,447, respectively)

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Summary

Objectives

The aim of this study was to assess genome-wide autozygosity in eight Italian beef breeds, six at critical risk of extinction, namely Calvana (CAL), Mucca Pisana (MUP), Pontremolese (PON), mainly reared in Tuscany, Sardo Bruna (SAB), Sardo Modicana (SAM), Sarda (SAR) reared in Sardinia

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