Papers by Irene Cardinali
Research Square (Research Square), Nov 9, 2023
Genes, Apr 27, 2023
This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY
Genes
Horse domestication and breed selection processes have profoundly influenced the development and ... more Horse domestication and breed selection processes have profoundly influenced the development and transformation of human society and civilization over time. Therefore, their origin and history have always attracted much attention. In Italy, several local breeds have won prestigious awards thanks to their unique traits and socio-cultural peculiarities. Here, for the first time, we report the genetic variation of three loci of the male-specific region of the Y chromosome (MSY) of four local breeds and another one (Lipizzan, UNESCO) well-represented in the Italian Peninsula. The analysis also includes data from three Sardinian breeds and another forty-eight Eurasian and Mediterranean horse breeds retrieved from GenBank for comparison. Three haplotypes (HT1, HT2, and HT3) were found in Italian stallions, with different spatial distributions between breeds. HT1 (the ancestral haplotype) was frequent, especially in Bardigiano and Monterufolino, HT2 (Neapolitan/Oriental wave) was found in ...
International Journal of Molecular Sciences
Nowadays, the coexistence between humans and domestic animals (especially dogs and cats) has beco... more Nowadays, the coexistence between humans and domestic animals (especially dogs and cats) has become a common scenario of daily life. Consequently, during a forensic investigation in civil or criminal cases, the biological material from a domestic animal could be considered “evidence” by law enforcement agencies. Animal genomics offers an important contribution in attacks and episodes of property destruction or in a crime scene where the non-human biological material is linked to the victim or perpetrator. However, only a few animal genetics laboratories in the world are able to carry out a valid forensic analysis, adhering to standards and guidelines that ensure the admissibility of data before a court of law. Today, forensic sciences focus on animal genetics considering all domestic species through the analysis of STRs (short tandem repeats) and autosomal and mitochondrial DNA SNPs (single nucleotide polymorphisms). However, the application of these molecular markers to wildlife se...
Biology, Feb 15, 2023
This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY
Frontiers in genetics, 2022
Mongolia is located in a strategic position at the eastern edge of the Eurasian Steppe. Nomadic p... more Mongolia is located in a strategic position at the eastern edge of the Eurasian Steppe. Nomadic populations moved across this wide area for millennia before developing more sedentary communities, extended empires, and complex trading networks, which connected western Eurasia and eastern Asia until the late Medieval period. We provided a fine-grained portrait of the mitochondrial DNA (mtDNA) variation observed in present-day Mongolians and capable of revealing gene flows and other demographic processes that took place in Inner Asia, as well as in western Eurasia. The analyses of a novel dataset (N 2,420) of mtDNAs highlighted a clear matrilineal differentiation within the country due to a mixture of haplotypes with eastern Asian (EAs) and western Eurasian (WEu) origins, which were differentially lost and preserved. In a wider genetic context, the prevalent EAs contribution, larger in eastern and central Mongolian regions, revealed continuous connections with neighboring Asian populations until recent times, as attested by the geographically restricted haplotype-sharing likely facilitated by the Genghis Khan’s so-called Pax Mongolica. The genetic history beyond the WEu haplogroups, notably detectable on both sides of Mongolia, was more difficult to explain. For this reason, we moved to the analysis of entire mitogenomes (N 147). Although it was not completely possible to identify specific lineages that evolved in situ, two major changes in the effective (female) population size were reconstructed. The more recent one, which began during the late Pleistocene glacial period and became steeper in the early Holocene, was probably the outcome of demographic events connected to western Eurasia. The Neolithic growth could be easily explained by the diffusion of dairy pastoralism, as already proposed, while the late glacial increase indicates, for the first time, a genetic connection with western Eurasian refuges, as supported by the unusual high frequency and internal sub-structure in Mongolia of haplogroup H1, a well-known post-glacial marker in Europe. Bronze Age events, without a significant demographic impact, might explain the age of some mtDNA haplogroups. Finally, a diachronic comparison with available ancient mtDNAs made it possible to link six mitochondrial lineages of present-day Mongolians to the timeframe and geographic path of the Silk Route.
Research in Veterinary Science
Genes
The present equine genetic variation mirrors the deep influence of intensive breeding programs du... more The present equine genetic variation mirrors the deep influence of intensive breeding programs during the last 200 years. Here, we provide a comprehensive current state of knowledge on the trends and prospects on the variation in the equine male-specific region of the Y chromosome (MSY), which was assembled for the first time in 2018. In comparison with the other 12 mammalian species, horses are now the most represented, with 56 documented MSY genes. However, in contrast to the high variability in mitochondrial DNA observed in many horse breeds from different geographic areas, modern horse populations demonstrate extremely low genetic Y-chromosome diversity. The selective pressures employed by breeders using pedigree data (which are not always error-free) as a predictive tool represent the main cause of this lack of variation in the Y-chromosome. Nevertheless, the detailed phylogenies obtained by recent fine-scaled Y-chromosomal genotyping in many horse breeds worldwide have contrib...
Animals, Jun 11, 2020
It is known that animal populations might be affected by bottleneck phenomena, which reduce genet... more It is known that animal populations might be affected by bottleneck phenomena, which reduce genetic variability, increase inbreeding and consequentially reduce evolutionary potential. Pedigree completeness, genetic variability and population structure were analyzed in the Sardinian Anglo-Arab horse (SAA) breed, and the analyzed results were compared with three other Italian horse populations: Maremmano, Murgese and Bardigiano (reported in bibliography). In addition, the maternal lineage was analyzed through mitochondrial DNA in order to preserve and improve the breed. The estimated parameters suggest that the SAA breed is well managed, especially when considering the female lineage because it still conserves a high number of founder mares. The role of breeding programs in the conservation of genetic diversity is essential. In fact, a breeding program might lead to fast genetic progress; however, it might also lead to a high level of inbreeding and consequently to a genetic drift. Analyzing both these parameters and the additional use of mitochondrial DNA might be an effective tool not only to verify the success of a breeding program, but also to be helpful for breeders on planning effective mating programs.
Biology
The deliberate or accidental introduction of invasive alien species (IAS) causes negative ecologi... more The deliberate or accidental introduction of invasive alien species (IAS) causes negative ecological and economic impacts altering ecosystem processes, imperiling native species and causing damage to human endeavors. A monthly monitoring program was performed in Lake Trasimeno (Central Italy) from July 2018 to July 2019 in order to provide an upgrade of the population ecology of Procambarus clarkii and to assess the genetic diversity by analyzing the relationships among mitochondrial DNA diversity. Our results confirmed that P. clarkii is well acclimatized in the lake, revealing a stable population structure favored by the resources and conditions typical of this ecosystem, which seem to be optimal for the maintenance of the species. Four distinct mitochondrial haplotypes were detected, but one of them was clearly overrepresented (76%), suggesting that a single predominant introduction event may have occurred in this area, likely followed by secondary events. The identification of t...
Table S1. Sources for the 758 goat control-region sequences. Table S2. Control-region haplotypes ... more Table S1. Sources for the 758 goat control-region sequences. Table S2. Control-region haplotypes and haplogroup classification of the 758 mtDNA sequences from Capra aegagrus (n = 19) and Capra hircus (n = 739). Table S3. Partial coding-region haplotypes and haplogroup classification of two bezoar mtDNAs. Table S4. Source and haplogroup affiliation of the goat complete mtDNA sequences. Figure S1. Nucleotide diversity and total number of substitutions along the entire mtDNA. Figure S2. A putative most parsimonious tree of 84 complete mtDNA sequences from goats. (XLSX 1268 kb)
Table S5. Goat haplogroup frequencies based on modern and ancient control-region mtDNA data from ... more Table S5. Goat haplogroup frequencies based on modern and ancient control-region mtDNA data from this study and downloaded from GenBanka. Table S6. Diagnostic mutational motifs of goat mtDNA haplogroups and sub-haplogroups. Table S7. A comparison of the phylogeographic features of goat, taurine and horse mtDNA haplogroups identified by analyzing domestic breeds from Eurasia. Table S8. Oligonucleotides used to amplify and to sequence (Sanger method) the goat mitochondrial genome. (PDF 652Â kb)
mitochondrial genomes unveil the impact of domestication on goat matrilineal variability
Animals : an Open Access Journal from MDPI, 2020
Simple Summary It is known that animal populations might be affected by bottleneck phenomena, whi... more Simple Summary It is known that animal populations might be affected by bottleneck phenomena, which reduce genetic variability, increase inbreeding and consequentially reduce evolutionary potential. Pedigree completeness, genetic variability and population structure were analyzed in the Sardinian Anglo-Arab horse (SAA) breed, and the analyzed results were compared with three other Italian horse populations: Maremmano, Murgese and Bardigiano (reported in bibliography). In addition, the maternal lineage was analyzed through mitochondrial DNA in order to preserve and improve the breed. The estimated parameters suggest that the SAA breed is well managed, especially when considering the female lineage because it still conserves a high number of founder mares. The role of breeding programs in the conservation of genetic diversity is essential. In fact, a breeding program might lead to fast genetic progress; however, it might also lead to a high level of inbreeding and consequently to a ge...
The phonotactic system of Afrikaans underwent multiple changes in its diachronic development. Whi... more The phonotactic system of Afrikaans underwent multiple changes in its diachronic development. While some consonant clusters got lost, others still surface in contemporary Afrikaans. In this paper, we investigate to what extent articulatory difference between the segments of a cluster contribute to its successful transmission. We proceed in two steps. First, we analyse the respective effects of differences in manner of articulation, place of articulation and voicing on the age at which a cluster is acquired by analysing Dutch acquisition data. Second, we investigate the role that these articulatory differences play in the diachronic frequency development from Dutch to Afrikaans. We demonstrate that large differences in manner of articulation between segments contribute to a cluster's success in acquisition and diachrony. In contrast, large differences in place of articulation have impeding effects, while voicing difference shows a more complicated behaviour.
Scientific Reports, 2020
Umbria is located in Central Italy and took the name from its ancient inhabitants, the Umbri, who... more Umbria is located in Central Italy and took the name from its ancient inhabitants, the Umbri, whose origins are still debated. Here, we investigated the mitochondrial DNA (mtDNA) variation of 545 present-day Umbrians (with 198 entire mitogenomes) and 28 pre-Roman individuals (obtaining 19 ancient mtDNAs) excavated from the necropolis of Plestia. We found a rather homogeneous distribution of western Eurasian lineages across the region, with few notable exceptions. Contemporary inhabitants of the eastern part, delimited by the Tiber River and the Apennine Mountains, manifest a peculiar mitochondrial proximity to central-eastern Europeans, mainly due to haplogroups U4 and U5a, and an overrepresentation of J (30%) similar to the pre-Roman remains, also excavated in East Umbria. Local genetic continuities are further attested to by six terminal branches (H1e1, J1c3, J2b1, U2e2a, U8b1b1 and K1a4a) shared between ancient and modern mitogenomes. Eventually, we identified multiple inputs fro...
European populations display low genetic diversity as the result of long term blending of the sma... more European populations display low genetic diversity as the result of long term blending of the small number of ancient founding ancestries. However it is still unclear how the combination of ancient ancestries related to early European foragers, Neolithic farmers and Bronze Age nomadic pastoralists can fully explain genetic variation across Europe. Populations in natural crossroads like the Italian peninsula are expected to recapitulate the overall continental diversity, but to date have been systematically understudied. Here we characterised the ancestry profiles of modern-day Italian populations using a genome-wide dataset representative of modern and ancient samples from across Italy, Europe and the rest of the world. Italian genomes captured several ancient signatures, including a non-steppe related substantial ancestry contribution ultimately from the Caucasus. Differences in ancestry composition as the result of migration and admixture generated in Italy the largest degree of p...
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Papers by Irene Cardinali