Silvia Bruno

The Gentile di Puglia sheep breed represents an important component of Southern Italy’s livestock biodiversity, yet its wool traits have not been systematically evaluated for several decades. This study aimed to provide an updated phenotypic assessment of key wool characteristics and to explore the structure of their variability across production contexts. Data were collected from 3089 animals from nine farms over two consecutive years and included fibre diameter, staple length, coefficient of variation in fibre diameter, and clean yield. Descriptive statistics, correlation analysis, principal component analysis, and mixed-effects models were applied to evaluate phenotypic patterns and partition sources of variability. Fibre diameter and staple length showed moderate variability, with most variation occurring within farm-year units, whereas clean yield exhibited a stronger dependence on farm-year conditions. Correlations among traits were generally weak, indicating a high degree of independence. The multivariate analysis revealed a diffuse structure, with no dominant axis explaining most of the variability. Variance component analysis confirmed that production context had a greater influence on clean yield than on fibre-related traits. These results highlight the importance of both conservation and management strategies. The observed variability may provide useful opportunities for future breeding and conservation strategies, while the sensitivity of clean yield to environmental and management factors underscores the need for improved handling practices. Overall, the Gentile di Puglia breed retains a flexible phenotypic profile that supports its conservation and potential valorisation in sustainable production systems.

Background: The presence of light-pigmented facial stripes, parallel on both sides of the cranial region, is a widespread characteristic in various goat breeds of European origin and beyond. In Italy, this phenotype is relatively common from the north to the south of the peninsula. The availability of genotypic data at single-nucleotide polymorphism (SNP) loci for breeds and populations characterized by such a pigmentation pattern enabled us to study the genomic regions potentially correlated with this phenotype, for simplicity referred to as “facciuto”. Methods: We adopted an F_ST-outlier approach to detect signals of differential selection in 18 pairwise comparisons, each involving 6 genetic goat types with the “facciuto” phenotype (Facciuta Lucana, Facciuta della Valnerina, Valfortorina, Teramana, Capestrina, and Roccaverano) contrasted with each of 3 “non-facciuto” goat breeds selected as reference populations (Red Mediterranean, light brown; Saanen, white; Malagueña, mahogany solid). Results: The analysis of the region ±200 kbps upstream and downstream of the two significant signals on chromosome 13 and 15 allowed us to identify, among the annotated genes, ASIP, AHCY, ITCH, DYNLRB1, MAP1LC3A, PIGU, LOC102177263, and DTX4, whose functions could be related to several mechanisms underlying the phenotype under investigation. Conclusions: This study confirmed the fundamental role of ASIP in pigmentation, although additional pathways may concurrently contribute to the determinism of the considered “facciuto” phenotype in Italian goats.

Myostatin (MSTN) is a highly conserved negative regulator of skeletal muscle in mammals. Inactivating mutations results in a hyper-muscularity phenotype known as “double muscling” in several livestock and model species. In Camelus dromedarius, the gene structure organization and the sequence polymorphisms have been previously investigated, using Sanger and Next-Generation Sequencing technologies on a limited number of animals. Here, we carried out a follow-up study with the aim to further expand our knowledge about the sequence polymorphisms at the myostatin locus, through the whole-genome sequencing data of 183 samples representative of the geographical distribution range for this species. We focused our polymorphism analysis on the ±5 kb upstream and downstream region of the MSTN gene. A total of 99 variants (77 Single Nucleotide Polymorphisms and 22 indels) were observed. These were mainly located in intergenic and intronic regions, with only six synonymous Single Nucleotide Polymorphisms in exons. A sequence comparative analysis among the three species within the Camelus genus confirmed the expected higher genetic distance of C. dromedarius from the wild and domestic two-humped camels compared to the genetic distance between C. bactrianus and C. ferus. In silico functional prediction highlighted: (i) 213 differential putative transcription factor-binding sites, out of which 41 relative to transcription factors, with known literature evidence supporting their involvement in muscle metabolism and/or muscle development; and (ii) a number of variants potentially disrupting the canonical MSTN splicing elements, out of which two are discussed here for their potential ability to generate a prematurely truncated (inactive) form of the protein. The distribution of the considered variants in the studied cohort is discussed in light of the peculiar evolutionary history of this species and the hypothesis that extremely high muscularity, associated with a homozygous condition for mutated (inactivating) alleles at the myostatin locus, may represent, in arid desert conditions, a clear metabolic disadvantage, emphasizing the thermoregulatory and water availability challenges typical of these habitats.