Assessing the diversity and population substructure of sarda breed bucks by using mtdna and y-chromosome markers

Maria Luisa Dettori*, Elena Petretto, Michele Pazzola, Oriol Vidal, Marcel Amills, Giuseppe Massimo Vacca

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review


A sample of 146 Sarda bucks from eight subregions of Sardinia, Italy (Nuorese, Barbagia, Baronia, Ogliastra, Sarrabus, Guspinese, Iglesiente, Sulcis) were characterized for Y-chromosome and mtDNA markers to assess the levels of population substructure. Five polymorphic loci (SRY, AMELY, ZFY, and DDX3Y) on the Y-chromosome were genotyped. The control region of mtDNA was sequenced as a source of complementary information. Analysis of Y-chromosome data revealed the segregation of 5 haplotypes: Y1A (66.43%), Y2 (28.57%), Y1C (3.57%), Y1B1 (0.71%), and Y1B2 (0.71%). High levels of Y-chromosome diversity were observed in populations from Southwest Sardinia. The FST values based on Y-chromosome and mtDNA data were low, although a paternal genetic differentiation was observed when comparing the Nuorese and Barbagia populations (Central Sardinia) with the Sulcis, Iglesiente, and Sarrabus populations (Southern Sardinia). AMOVA analysis supported the lack of population substructure. These results suggest the occurrence of a historical and extensive gene flow between Sarda goat populations from different locations of Sardinia, despite the fact that this island is covered by several large mountain ranges. Introgression with foreign caprine breeds in order to improve milk production might have also contributed to avoiding the genetic differentiation amongst Sarda populations.

Original languageAmerican English
Article number2194
Pages (from-to)1-13
Number of pages13
Issue number12
Publication statusPublished - Dec 2020


  • Buck
  • DDX3Y
  • Goat
  • Mitochondrial DNA
  • Population structuring
  • SRY
  • Y-chromosome
  • ZFY


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