L. Nanni

Publication Date: 2011

Publication Name: Theoretical and Applied Genetics

Research Interests:
Technology, Polymorphism, Phylogeography, Population Genetics, Population Dynamics, and 17 moreArabidopsis thaliana, Biological Sciences, Central America, Animal Breeding, South America, Phaseolus, Genetic linkage analysis, Geographic distribution, Phaseolus vulgaris, Genetic Recombination, Common bean, Genetic variation, Genome sequence, Species Specificity, Base Sequence, Genetic Markers, and Nucleotides

Holoprosencephaly (HPE) is a common developmental anomaly of the human forebrain and midface where the cerebral hemispheres fail to separate into distinct left and right halves. We have previously reported haploinsufficiency for Sonic... more

Holoprosencephaly (HPE) is a common developmental anomaly of the human forebrain and midface where the cerebral hemispheres fail to separate into distinct left and right halves. We have previously reported haploinsufficiency for Sonic Hedgehog ( SHH ) as a cause for HPE. We have now performed mutational analysis of the complete coding region and intron-exon junctions of the SHH gene in 344 unrelated affected individuals. Herein, we describe 13 additional unrelated affected individuals with SHH mutations, including nonsense and missense mutations, deletions and an insertion. These mutations occur throughout the extent of the gene. No specific genotype-phenotype association is evident based on the correlation of the type or position of the mutations. In conjunction with our previous studies, we have identified a total of 23 mutations in 344 unrelated cases of HPE. They account for 14 cases of familial HPE and nine cases of sporadic HPE. Mutations in SHH were detected in 10 of 27 (37%) families showing autosomal dominant transmission of the HPE spectrum, based on structural anomalies. Interestingly, three of the patients with an SHH mutation also had abnormalities in another gene that is expressed during forebrain development. We suggest that the interactions of multiple gene products and/or environmental elements may determine the final phenotypic outcome for a given individual and that variations among these factors may cause the wide variability in the clinical features seen in HPE.

Publication Date: 1999

Publication Name: Human Molecular Genetics

Research Interests:
Biological Sciences, DNA, Humans, Sequence alignment, Human Molecular Genetics, and 6 moreProteins, Pedigree, Phenotype, Spectrum, Holoprosencephaly, and Amino Acid Sequence

Together with the knowledge of the population structure, a critical aspect for the planning of association and/or population genomics studies is the level of linkage disequilibrium (LD) that characterizes the species and the population... more

Together with the knowledge of the population structure, a critical aspect for the planning of association and/or population genomics studies is the level of linkage disequilibrium (LD) that characterizes the species and the population used for such an analysis. We have analyzed the population structure and LD in wild and domesticated populations of Phaseolus vulgaris L. using amplified fragment length polymorphism markers, most of which were genetically mapped in two recombinant inbred populations. Our results reflect the previous knowledge of the occurrence of two major wild gene pools of P. vulgaris, from which two independent domestication events originated, one in the Andes and one in Mesoamerica. The high level of LD in the whole sample was mostly due to the gene pool structure, with a much higher LD in domesticated compared to wild populations. In relation to association studies, our results also suggest that whole-genome-scan approaches are feasible in the common bean. Interestingly, an excess of inter-chromosomal LD was found in the domesticated populations, which suggests an important role for epistatic selection during domestication. Moreover, our results indicate the occurrence of a strong bottleneck in the Andean wild population before domestication, suggesting a Mesoamerican origin of P. vulgaris. Finally, our data support the occurrence of a single domestication event in Mesoamerica, and the same scenario in the Andes.

Publication Date: 2009

Publication Name: Evolutionary Applications

Research Interests:
Evolutionary Biology, Population structure, Evolutionary game theory and applications, Phaseolus vulgaris, Linkage Disequilibrium, and Evolutionary

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Platelets play a pivotal role in thrombus formation in patients with coronary artery disease (CAD), since the high shear generated in the presence of severe coronary stenoses can increase platelet reactivity (PR) and trigger... more

Platelets play a pivotal role in thrombus formation in patients with coronary artery disease (CAD), since the high shear generated in the presence of severe coronary stenoses can increase platelet reactivity (PR) and trigger thrombogenesis. Several reports have suggested a functional effect of human platelet antigen (HPA)-1 and HPA-2 gene polymorphisms on PR. However, the true determinants of high-shear PR in CAD patients taking their usual medications are still incompletely understood. In 104 patients with stable CAD we analyzed the possible clinical, biochemical and genetic factors affecting high-shear PR, measured by the ex vivo platelet function analyzer (PFA-100) collagen-adenosine diphosphate method. In univariate analysis, a lower PR was associated with decreased plasma von Willebrand factor-ristocetin cofactor activity, increased blood levels of triglycerides, female sex, use of thienopyridines, lower platelet count, and HPA-1b carriership. All variables, except HPA-1b, remained associated with lower PR in multivariate analysis. However, the introduction in the model of the HPA-1 and HPA-2 genotypes as interaction terms led to a significant improvement in the prediction of PR, although the quantitative effect was small (about 3% improvement, P=0.046).Thus, in CAD patients, there seems to be only a mild effect of the platelet glycoprotein HPA-1 and HPA-2 polymorphisms on collagen-adenosine diphosphate-stimulated PR after the effect of well-established clinical and biochemical determinants are considered.

Publication Date: 2005

Publication Name: Blood Coagulation & Fibrinolysis

Research Interests:
Polymorphism, Humans, Collagen, von Willebrand factor, Blood Coagulation, and 11 moreRisk factors, Platelet activation mechanism, Clinical Sciences, Aged, Middle Aged, Coronary heart disease, Prognosis, Risk Factors, Coronary Artery Disease, Antigens, and Adenosine Diphosphate

In Europe, flint maize landraces are still cultivated, particularly in marginal areas where traditional farming is often practised. In Italy, their cultivation is generally linked to the production of 'polenta', for which dent... more

In Europe, flint maize landraces are still cultivated, particularly in marginal areas where traditional farming is often practised. In Italy, their cultivation is generally linked to the production of 'polenta', for which dent corn is not suitable from a quality point of view. We have studied ...

Publisher: eprints.uniss.it

Publication Date: 2008

The molecular screening of the whole genome for the signature of selection is a very promising approach to identify genes and genomic regions with adaptive role.“Natural selection mapping” or “Genomic scans for the signature of selection”... more

The molecular screening of the whole genome for the signature of selection is a very promising approach to identify genes and genomic regions with adaptive role.“Natural selection mapping” or “Genomic scans for the signature of selection” can be useful in ...