Phylogeny and patterns of diversity of goat mtDNA haplogroup A revealed by resequencing complete mitogenomes

PLoS One. 2014 Apr 24;9(4):e95969. doi: 10.1371/journal.pone.0095969. eCollection 2014.

Abstract

We sequenced to near completion the entire mtDNA of 28 Sardinian goats, selected to represent the widest possible diversity of the most widespread mitochondrial evolutionary lineage, haplogroup (Hg) A. These specimens were reporters of the diversity in the island but also elsewhere, as inferred from their affiliation to each of 11 clades defined by D-loop variation. Two reference sequences completed the dataset. Overall, 206 variations were found in the full set of 30 sequences, of which 23 were protein-coding non-synonymous single nucleotide substitutions. Many polymorphic sites within Hg A were informative for the reconstruction of its internal phylogeny. Bayesian and network clustering revealed a general similarity over the entire molecule of sequences previously assigned to the same D-loop clade, indicating evolutionarily meaningful lineages. Two major sister groupings emerged within Hg A, which parallel distinct geographical distributions of D-loop clades in extant stocks. The pattern of variation in protein-coding genes revealed an overwhelming role of purifying selection, with the quota of surviving variants approaching neutrality. However, a simple model of relaxation of selection for the bulk of variants here reported should be rejected. Non-synonymous diversity of Hg's A, B and C denoted that a proportion of variants not greater than that allowed in the wild was given the opportunity to spread into domesticated stocks. Our results also confirmed that a remarkable proportion of pre-existing Hg A diversity became incorporated into domestic stocks. Our results confirm clade A11 as a well differentiated and ancient lineage peculiar of Sardinia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • DNA, Mitochondrial / genetics*
  • Genetic Variation*
  • Genome, Mitochondrial*
  • Goats / genetics*
  • Haplotypes*
  • Phylogeny
  • Sequence Analysis, DNA

Substances

  • DNA, Mitochondrial

Grants and funding

Work was supported by grants Istituto di Genetica delle Popolazioni - Progetti di ricerca e innovazione al di sotto della soglia de minimis - Programma Operativo Regionale Sardegna 2000/2006 Asse 3 Risorse Umane Misura 3.1.3. – Ricerca e sviluppo tecnologico nelle imprese e territorio – “Sviluppo di un sistema informatico integrato per l'identificazione, la valorizzazione e la conservazione del patrimonio caprino in Sardegna” to M.P.; L. R. 7 agosto 2007, n. 7 - Promozione della ricerca scientifica e dell' innovazione tecnologica in Sardegna (Bando 2008) – “Diversità genetica, conservazione e diffusione del germoplasma di specie di interesse faunistico presenti in Sardegna” to G.G.L.; Programmi di Ricerca Scientifica di Rilevante Interesse Nazionale - Ministero dell' Istruzione dell' Università e della Ricerca 2012JA4BTY_003 to A.N. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.