Papers by donata luiselli
Genes, Jun 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
Mimesis Edizioni eBooks, 2021
Fin dall\u2019inizio degli studi di biologia umana volti ad individuare le relazioni fra i geni e... more Fin dall\u2019inizio degli studi di biologia umana volti ad individuare le relazioni fra i geni e i tratti fenotipici individuali che si manifestano nel corso della vita, un posto rilevante \ue8 stato riservato alle ricerche tese a comprendere il ruolo della diversit\ue0 genetica nella eziopatogenesi delle malattie, attraverso analisi di linkage e, pi\uf9 recentemente, studi di associazione su tutto il genom
Current Issues in Molecular Biology, Mar 31, 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
PubMed, Apr 1, 1996
PGP electrophoretic polymorphism was studied in a sample of 548 blood donors from the province of... more PGP electrophoretic polymorphism was studied in a sample of 548 blood donors from the province of Bologna, Italy. Haemolysates were typed by thin starch-gel electrophoresis, a modification of Barker and Hopkinson's method [1978]. The distribution of PGP phenotypes and gene frequencies in Italy varies considerably. The pattern observed in the Bologna sample agrees with the data from northern Italian regions and comparisons show that PGP*2 and PGP*3 gene frequencies tend to decrease along a north-south cline. Sardinia shows a peculiar distribution of gene frequencies where the PGP*2 allele is very low and the PGP*3 allele is absent. The world PGP gene frequencies appear to be distributed along a north-south cline.
Advances in Nutrition, Nov 1, 2020
ABSTRACT Ecological sensing and inflammation have evolved to ensure optima between organism survi... more ABSTRACT Ecological sensing and inflammation have evolved to ensure optima between organism survival and reproductive success in different and changing environments. At the molecular level, ecological sensing consists of many types of receptors located in different tissues that orchestrate integrated responses (immune, neuroendocrine systems) to external and internal stimuli. This review describes emerging data on taste and chemosensory receptors, proposing them as broad ecological sensors and providing evidence that taste perception is shaped not only according to sense epitopes from nutrients but also in response to highly diverse external and internal stimuli. We apply a biological anthropological approach to examine how ecological sensing has been shaped by these stimuli through human evolution for complex interkingdom communication between a host and pathological and symbiotic bacteria, focusing on population-specific genetic diversity. We then focus on how these sensory receptors play a major role in inflammatory processes that form the basis of many modern common metabolic diseases such as obesity, type 2 diabetes, and aging. The impacts of human niche construction and cultural evolution in shaping environments are described with emphasis on consequent biological responsiveness.
Annals of Human Biology, Jan 2, 2018
Southern Italy and Sicily played a key role in the peopling history of the Mediterranean. While g... more Southern Italy and Sicily played a key role in the peopling history of the Mediterranean. While genetic research showed the remarkable homogeneity of these regions, surname-based studies instead suggested low population mobility, hence potential structuring. In order to better understand these different patterns, this study (1) thoroughly analysed the surname structure of Sicily and Southern Italy and (2) tested its relationships with a wide set of molecular markers. Surname data were collected from 1213 municipalities and compared to uniparental and autosomal genetic markers typed in ∼300 individuals from 8-10 populations. Surname analyses were performed using different multivariate methods, while comparisons with genetic data relied on correlation tests. Surnames were clearly structured according to regional geographic patterns, which likely emerged because of recent isolation-by-distance-like population dynamics. In general, genetic markers, hinting at a pervasive homogeneity, did not correlate with surname distribution. However, long autosomal haplotypes (>5 cM) that compared to genotypic (SNPs) data identify more "recent" relatedness, showing a clear association with surname patterns. The apparent contradiction between surname structure and genetic homogeneity was resolved by figuring surnames as recent "ripples" deposited on a vast and ancient homogeneous genetic "surface".
FrancoAngeli srl eBooks, 2016
Reproductive Biomedicine Online, May 1, 2013
the main indication, followed by hematological malignancies. As a result of those IVF cycles, 89 ... more the main indication, followed by hematological malignancies. As a result of those IVF cycles, 89 healthy and HLA matched babies were born. aHSCT have been performed for 44 children so far, where transplantation has been successful in 40 children whose post-transplantational clinical conditions demonstrated hematopoietic and immunological reconstitution. Unfortunately, in 4 cases with beta-thalassemia, graft failure occurred after aHSCT. The follow up of families and siblings born after preimplantation HLA typing is crucially important for the demonstration of the feasibility and the success of this technique. The results of this large patient set, which is from one center demonstrates that preimplantation HLA typing is a reliable technique which provides a realistic option for the couples in the treatment of an affected child in need of HSCT when no HLA matched donor is available.
International Journal of Molecular Sciences, Feb 20, 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
Human Reproduction, Mar 9, 2017
We provide statistical evidence in favor of the existence of purifying selection for mtDNA mutati... more We provide statistical evidence in favor of the existence of purifying selection for mtDNA mutations in human oocytes acting between the expulsion of the first and second polar bodies (PBs). WHAT IS KNOWN ALREADY: Several lines of evidence in Metazoa, including humans, indicate that variation within the germline of mitochondrial genomes is under purifying selection. The presence of this internal selection filter in the germline has important consequences for the evolutionary trajectory of mtDNA. However, the nature and localization of this internal filter are still unclear while several hypotheses are proposed in the literature. STUDY DESIGN, SIZE, DURATION: In this study, 60 mitochondrial genomes were sequenced from 17 sets of oocytes, first and second PBs, and peripheral blood taken from nine women between 38 and 43 years of age. PARTICIPANTS/MATERIALS, SETTING, METHODS: Whole genome amplification was performed only on the single cell samples and Sanger sequencing was performed on amplicons. The comparison of variant profiles between first and second PB sequences showed no difference in substitution rates but displayed instead a sharp difference in pathogenicity scores of protein-coding sequences using three different metrics (MutPred, Polyphen and SNPs&GO). MAIN RESULTS AND THE ROLE OF CHANCE: Unlike the first, second PBs showed no significant differences in pathogenic scores with blood and oocyte sequences. This suggests that a filtering mechanism for disadvantageous variants operates during oocyte development between the expulsion of the first and second PB.
bioRxiv (Cold Spring Harbor Laboratory), Oct 21, 2017
Transposable Elements are biologically important components of eukaryote genomes. In particular, ... more Transposable Elements are biologically important components of eukaryote genomes. In particular, non-LTR retrotransposons (N-LTRrs) extensively shaped the human genome throughout evolution. In this study, we compared retrotransposon insertions differentially present in the genomes of Anatomically Modern Humans, Neanderthals, Denisovans and Chimpanzees, in order to assess the possible impact of retrotransposition in the differentiation of the human lineage. Briefly, we first identified species-specific N-LTRrs and established their distribution in present day human populations. These analyses shortlisted a group of N-LTRr insertions that were found exclusively in Anatomically Modern Humans. Notably, these insertions targeted genes more frequently than randomly expected and are associated with an increase in the number of transcriptional/splicing variants of those genes they inserted in. The analysis of the functionality of genes targeted by human-specific N-LTRr insertions seems to reflect phenotypic changes that occurred during human evolution. Furthermore, the expression of genes containing the most recent N-LTRr insertions is enriched in the brain, especially in undifferentiated neurons, and these genes associate in networks related to neuron maturation and migration. Additionally, we also identified candidate N-LTRr insertions that have likely produced new functional variants exclusive to modern humans, which show traces of positive selection and are now fixed in all present-day human populations. In sum, our results strongly suggest that N-LTRr impacted our differentiation as a species and have been a constant source of genomic variability all throughout the evolution of the human lineage.
International Journal of Molecular Sciences, Dec 14, 2022
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
Springer eBooks, Jul 6, 2013
The Mediterranean Sea has long been one of the most important and crowded natural hubs for the ex... more The Mediterranean Sea has long been one of the most important and crowded natural hubs for the expansion of human genes and cultures, representing a tri-continental crossroads for human migrations since the first dispersals of anatomically modern humans out of Africa. Both its ancient and modern history, with its amazing chronicle of biological and cultural transitions, has substantially influenced the current patchwork of anthropological types existing within this area. For a deep dissection of this patchwork, Anthropological Genetics combines information related to the population dynamics able to shape the genetic structure of human populations (i.e. geographical constraints, language, cultural, social and political barriers) to those provided by the powerful tools of molecular biology and population genetics. This comprehensive approach allows to trace genetic profiles of Mediterranean populations into the past to discover and reconstruct their origins and demographic histories, as well as their evolutionary relationships. Nevertheless, the genetic landscape of Mediterranean populations is far from being exhaustively drawn. Several Anthropological Genetics projects, basing on an even deeper genetic characterization of dense and accurately selected geographic samples, have been just launched and promise to shed new light on the pivotal role of the Mediterranean basin as a genetic barrier and/or a bridge between human groups characterized by different African, Near Eastern or European cultural backgrounds.
Uploads
Papers by donata luiselli