Genomes and Genes
Giovanni Destro Bisol
Affiliation: University La Sapienza
Location: Roma, Italy
CURRENT RESEARCH PROJECTS
Genetic history of the population of sub-Saharan Africa.
The project aims to reconstruct the processes that have affected the Nigero-Cameroon population plateau integrating biological information with cultural aspects.
Genetic adaptations in human populations.
I tested the hypothesis that the interaction between derivatives of oxidation of hemoglobin and red cell membrane proteins is a mechanism which is at work in different genetic adaptations to malaria. More recently, I worked on lactase persistence in European and African populations in order to detect signatures of selection.
Interdisciplinary study of Italian language minorities.
The research focused on the German-speaking community of Veneto (Sappada) and Friuli (Sauris, Timau) and Trentino (Cimbri, Ladin and neighboring groups), in order to determine the relationships between cultural, demographic and genetic factors.
Data-sharing in human population genetic studies.
I am currently investigating the mode and extent of research data sharing in evolutionary, forensic and medical genetics, focusing on polymorphisms of mitochondrial DNA and Y chromosome.
- Chikhi L, Destro Bisol G, Pascali V, Baravelli V, Dobosz M, Barbujani G. Clinal variation in the nuclear DNA of Europeans. Hum Biol. 1998;70:643-57 pubmed
- Destro Bisol G, Battaggia C. A report of four different unusual 6-PGD electrotypes in Caucasian and Negro populations. Hum Genet. 1988;78:294-5 pubmed..Four different unusual 6-phosphogluconate dehydrogenase (6-PGD) electrophoretic patterns found among the Italian (Rome), Bamileke (Cameroon), and North Bateke and Babenga Pygmy (Congo) populations are described. ..
- Zhivotovsky L, Underhill P, Cinnioglu C, Kayser M, Morar B, Kivisild T, et al. The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time. Am J Hum Genet. 2004;74:50-61 pubmed..This value is used to estimate the times of the African Bantu expansion, the divergence of Polynesian populations (the Maoris, Cook Islanders, and Samoans), and the origin of Gypsy populations from Bulgaria. ..
- Tishkoff S, Varkonyi R, Cahinhinan N, Abbes S, Argyropoulos G, Destro Bisol G, et al. Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance. Science. 2001;293:455-62 pubmed..These results support the hypothesis that malaria has had a major impact on humans only since the introduction of agriculture within the past 10,000 years and provide a striking example of the signature of selection on the human genome. ..
- Santos F, Pandya A, Kayser M, Mitchell R, Liu A, Singh L, et al. A polymorphic L1 retroposon insertion in the centromere of the human Y chromosome. Hum Mol Genet. 2000;9:421-30 pubmed..Chromosomes carrying LY1 show considerable microsatellite diversity, suggesting an ancient origin for the lineage at approximately 10 000 years ago (with wide confidence limits), but only limited subsequent migration. ..
- Novelli G, Spedini G, Destro Bisol G, Gennarelli M, Fattorini C, Dallapiccola B. North Eurasian origin of the myotonic dystrophy mutation. Hum Mutat. 1994;4:79-81 pubmed
- Tishkoff S, Pakstis A, Stoneking M, Kidd J, Destro Bisol G, Sanjantila A, et al. Short tandem-repeat polymorphism/alu haplotype variation at the PLAT locus: implications for modern human origins. Am J Hum Genet. 2000;67:901-25 pubmed
- Coia V, Jüliger S, Mordmuller B, Kreidenweis A, Stroh A, Ortega C, et al. Analysis of polymorphic sites in the promoter of the nitric oxide synthase 2 gene. Biochem Biophys Res Commun. 2005;335:1123-31 pubmed..Three point mutations were identified in this region. In vitro studies with promoter constructs showed an altered expression of the marker gene depending on the promoter variant used. ..
- Pascali V, Dobosz M, Destro Bisol G, D Aloja E. Characterization of genetic variants of human serum transferrin by isoelectric focusing: comparison between conventional and immobilized pH gradients, and application to a protocol for paternity testing. Electrophoresis. 1988;9:411-7 pubmed..Sample entry into the matrix was optimized by addition of 5 mM Tris to the gels, and initially running them at low voltage. Recommendations are provided for the application of Tf typing for paternity testing. ..
- Fuselli S, de Filippo C, Mona S, Sistonen J, Fariselli P, Destro Bisol G, et al. Evolution of detoxifying systems: the role of environment and population history in shaping genetic diversity at human CYP2D6 locus. Pharmacogenet Genomics. 2010;20:485-99 pubmed publisher..These alleles reached a balanced co-existence with other important and previously selected variants. We suggest that the pronounced substrate-dependent activity of most of these enzymes expanded the spectrum of the metabolic response. ..
- Witt H, Sahin Toth M, Landt O, Chen J, Kahne T, Drenth J, et al. A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. Nat Genet. 2006;38:668-73 pubmed..In conclusion, the G191R variant of PRSS2 mitigates intrapancreatic trypsin activity and thereby protects against chronic pancreatitis. ..
- Maviglia R, Dobosz M, Boschi I, Caglia A, Hall D, Capelli C, et al. A repository of 14 PCR-loci Italian gene frequencies in the World Wide Web. Forensic Sci Int. 2001;115:99-101 pubmed
- Coia V, Sansonetti B, Paoli G, Tofanelli S, Spedini G, Destro Bisol G. Variation at 10 protein coding loci in the Mbenzele Pygmies from the Central African Republic and a comparison with microsatellite data. Am J Hum Biol. 2002;14:9-14 pubmed
- Verrelli B, McDonald J, Argyropoulos G, Destro Bisol G, Froment A, Drousiotou A, et al. Evidence for balancing selection from nucleotide sequence analyses of human G6PD. Am J Hum Genet. 2002;71:1112-28 pubmed..The present study demonstrates that nucleotide sequence analyses can reveal signatures of both historical and recent selection in the genome and may elucidate the impact that infectious disease has had during human evolution. ..
- Garrigan D, Kingan S, Pilkington M, Wilder J, Cox M, Soodyall H, et al. Inferring human population sizes, divergence times and rates of gene flow from mitochondrial, X and Y chromosome resequencing data. Genetics. 2007;177:2195-207 pubmed..e., from the Bantu-speaking population into other African populations. Conversely, mitochondrial gene flow is more extensive between non-African populations, but appears to be absent between European and Asian populations. ..
- Destro Bisol G, Maviglia R, Caglia A, Boschi I, Spedini G, Pascali V, et al. Estimating European admixture in African Americans by using microsatellites and a microsatellite haplotype (CD4/Alu). Hum Genet. 1999;104:149-57 pubmed..26+/-0.02. The narrow confidence interval indicates that allele frequency data from multiple microsatellite loci, whether analyzed independently or as haplotypes, are particularly useful for estimating genetic admixture. ..
- Chikhi L, Destro Bisol G, Bertorelle G, Pascali V, Barbujani G. Clines of nuclear DNA markers suggest a largely neolithic ancestry of the European gene pool. Proc Natl Acad Sci U S A. 1998;95:9053-8 pubmed..We argue that many mitochondrial lineages whose origin has been traced back to the Paleolithic period probably reached Europe at a later time. ..
- Destro Bisol G, Adriani A, Briziobello A, Spedini G. Further data on the distribution of PGM1 and CAII polymorphisms among the Subsaharan populations (Central African Republic and Benin). Anthropol Anz. 1987;45:145-52 pubmed..PGM1 and CAII polymorphisms were studied in four population samples of the Central African Republic (Mbugu and Sango) and of Benin (Goun and Nago). The results are compared with those reported on other African populations. ..
- Destro Bisol G, Battaggia C, Santini S. Obtaining replicas from a polyacrylamide gel at different stages of the same electrophoretic run. Clin Chem. 1992;38:592-3 pubmed
- Anagnostou P, Battaggia C, Coia V, Capelli C, Fabbri C, Pettener D, et al. Tracing the distribution and evolution of lactase persistence in Southern Europe through the study of the T(-13910) variant. Am J Hum Biol. 2009;21:217-9 pubmed publisher..Robust signals of selection can be observed in North-East Italy only. We discuss the possible role of cultural traits and genetic history in determining these observed micro-evolutionary patterns. ..
- Anagnostou P, Coia V, Spedini G, Destro Bisol G. Mitochondrial, Y-chromosomal and autosomal variation in Mbenzele Pygmies from the Central African Republic. Coll Antropol. 2010;34:535-43 pubmed
- Destro Bisol G, Jobling M, Rocha J, Novembre J, Richards M, MULLIGAN C, et al. Molecular anthropology in the genomic era. J Anthropol Sci. 2010;88:93-112 pubmed..Here we present an overview of the meeting and discuss perspectives and prospects of Molecular Anthropology in the genomic era. ..
- Cruciani F, Trombetta B, Massaia A, Destro Bisol G, Sellitto D, Scozzari R. A revised root for the human Y chromosomal phylogenetic tree: the origin of patrilineal diversity in Africa. Am J Hum Genet. 2011;88:814-818 pubmed publisher..An analysis of 2204 African DNA samples showed that the deepest clades of the revised MSY phylogeny are currently found in central and northwest Africa, opening new perspectives on early human presence in the continent. ..
- Veeramah K, Wegmann D, Woerner A, Mendez F, Watkins J, Destro Bisol G, et al. An early divergence of KhoeSan ancestors from those of other modern humans is supported by an ABC-based analysis of autosomal resequencing data. Mol Biol Evol. 2012;29:617-30 pubmed publisher..This approach is likely to prove to be an invaluable tool for demographic inference using genome-wide resequencing data. ..
- Sansonetti B, Rossi P, Destro Bisol G. Anthropological survey on north Cameroon peopling: I. GC subtyping (with a brief overview on the GC distribution in sub-Saharan Africa). Gene Geogr. 1992;6:109-18 pubmed..125 among Fulbe and that of GC*2 from 0.035 among Uldeme to 0.092 among Tupuri. The results obtained are discussed in the light of the knowledge about the distribution and the possible selective relevance of GC polymorphism. ..
- Destro Bisol G, Presciuttini S, D Aloja E, Dobosz M, Spedini G, Pascali V. Genetic variation at the ApoB 3'HVR, D2S44, and D7S21 loci in the Ewondo Ethnic Group of Cameroon. Am J Hum Genet. 1994;55:168-74 pubmed..This analysis indicated a genetic affinity between Ewondos, U.S. Blacks, and Afro-Caribbean Blacks and outlined the genetic diversity between Ewondos, Caucasians, and Asian Indians. ..
- Martorana M, Battaggia C, Destro Bisol G, Sansonetti B, Aebischer M, Spedini G. A seven year anthropobiological survey on the distribution of abnormal hemoglobins in Cameroon. Anthropol Anz. 1996;54:229-37 pubmed..003 +/- 0.002), Fulbe (0.002 +/- 0.002), Mafa (0.005 +/- 0.005), Mundang (0.005 +/- 0.005), Tupuri (0.010 +/- 0.007) and Podokwo (0.015 +/- 0.015). The possible reasons for these variations in allele frequencies are discussed. ..
- Destro Bisol G. Reusing Cellogel strips after visualization of electrophoretically separated isozymes. Electrophoresis. 1993;14:238-9 pubmed..The method is based on washing with H2O and absolute methanol and allows reusing the strips two or three times, thus considerably reducing the costs. ..
- Destro Bisol G, Capelli C, Belledi M. Inferring microevolutionary patterns from allele-size frequency distributions of minisatellite loci: a worldwide study of the APOB 3' hypervariable region polymorphism. Hum Biol. 2000;72:733-51 pubmed..Some possible confounding factors are discussed and a prospect of how the hypothesis could be refined and tested is given. ..
- Destro Bisol G, Spedini G, Pascali V. Application of different genetic distance methods to microsatellite data. Hum Genet. 2000;106:130-2 pubmed
- Destro Bisol G, D Aloja E, Spedini G, Scatena R, Giardina B, Pascali V. Brief communication: Resistance to Falciparum malaria in alpha-thalassemia, oxidative stress, and hemoglobin oxidation. Am J Phys Anthropol. 1999;109:269-73 pubmed
- Scozzari R, Cruciani F, Santolamazza P, Malaspina P, Torroni A, Sellitto D, et al. Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations. Am J Hum Genet. 1999;65:829-46 pubmed..Despite some correspondence between language affiliation and genetic similarity, geographic proximity seems to be a better predictor of genetic affinity. ..
- Destro Bisol G. mtDNA variation in 95 individuals from two populations from southwest Cameroon. Hum Biol. 1994;66:1111 pubmed
- Cox M, Mendez F, Karafet T, Pilkington M, Kingan S, Destro Bisol G, et al. Testing for archaic hominin admixture on the X chromosome: model likelihoods for the modern human RRM2P4 region from summaries of genealogical topology under the structured coalescent. Genetics. 2008;178:427-37 pubmed publisher..The pmc summary statistic, which has improved power with larger samples of chromosomes, yields values that are significantly unlikely under the RAR model and fit expectations better under a range of archaic admixture scenarios. ..
- Ronai Z, Witt H, Rickards O, Destro Bisol G, Bradbury A, Sahin Toth M. A common African polymorphism abolishes tyrosine sulfation of human anionic trypsinogen (PRSS2). Biochem J. 2009;418:155-61 pubmed publisher..As a result, the p.D153H polymorphism which eliminates this modification could become widespread in a healthy population. ..
- Coelho M, Luiselli D, Bertorelle G, Lopes A, Seixas S, Destro Bisol G, et al. Microsatellite variation and evolution of human lactase persistence. Hum Genet. 2005;117:329-39 pubmed
- Destro Bisol G, Donati F, Coia V, Boschi I, Verginelli F, Caglià A, et al. Variation of female and male lineages in sub-Saharan populations: the importance of sociocultural factors. Mol Biol Evol. 2004;21:1673-82 pubmed
- Bruges Armas J, Destro Bisol G, Lopez Vazquez A, Couto A, Spedini G, Gonzalez S, et al. HLA class I variation in the West African Pygmies and their genetic relationship with other African populations. Tissue Antigens. 2003;62:233-42 pubmed..However, both the genetic distances and the within-group variation suggests that the Bakola are more admixed with Bantu farmers than Mbenzele. ..
- Montinaro F, Boschi I, Trombetta F, Merigioli S, Anagnostou P, Battaggia C, et al. Using forensic microsatellites to decipher the genetic structure of linguistic and geographic isolates: A survey in the eastern Italian Alps. Forensic Sci Int Genet. 2012;6:827-33 pubmed publisher..These findings point to the importance of considering the demographic and cultural profile of populations in forensic applications, even in a context of substantial genetic homogeneity such as that of European populations. ..
- Destro Bisol G, Anagnostou P, Batini C, Battaggia C, Bertoncini S, Boattini A, et al. Italian isolates today: geographic and linguistic factors shaping human biodiversity. J Anthropol Sci. 2008;86:179-88 pubmed..Ethical and educational aspects are also foreseen by the project, by using informed consents together with disseminating activities in loco, completed by the creation of a dedicated web site for both scientific and public audiences. ..
- Chiurazzi P, Destro Bisol G, Genuardi M, Oostra B, Spedini G, Neri G. Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan population. Am J Med Genet. 1996;64:216-9 pubmed
- Destro Bisol G, Briziobello A, Adriani A, Spedini G. Frequencies of the GPXT1 (or GPX*2(1) and CA2II alleles in some Congo populations. Hum Hered. 1986;36:58-61 pubmed..All show a polymorphic frequency of the GPXT1 and CA2II alleles, though with a certain variability of values. ..
- Spínola H, Couto A, Peixoto M, Anagnostou P, Destro Bisol G, Spedini G, et al. HLA class-I diversity in Cameroon: evidence for a north-south structure of genetic variation and relationships with African populations. Ann Hum Genet. 2011;75:665-77 pubmed publisher..On the other hand, signals of shared ancestry between the Bamileke and Ewondo and the Bantu speakers from central and southern Africa were detected. ..
- Destro Bisol G, Spinella A. Non-equilibrium pH gradient electrophoresis (NEPHGE) on ultrathin polyacrylamide gels containing separators: improved erythrocyte phosphoglucomutase (PGM) and esterase D (EsD) diagnosis in red cell lysates and bloodstains. Forensic Sci Int. 1989;42:43-50 pubmed..They have been based on non-equilibrium pH gradient electrophoresis and on the addition of chemical spacers (EPPS for PGM1 and HEPES for EsD) to the gel mixture. ..
- Destro Bisol G, Battaggia C, Macchiarelli R, Bailly C, Scozzari M, Spedini G. A bio-anthropological study on the Bakakas of Cameroon. Ann Hum Biol. 1992;19:185-95 pubmed..The genetic distances among Bakakas and 14 other Central African populations were also calculated from six genetic loci. ..
- Battaggia C, Ruscitto D, Destro Bisol G, Vacca L, Calo C, Vona G. Frequencies at CD4, FES, and F13A1 microsatellite loci in central-southern Sardinia (Italy). J Forensic Sci. 2003;48:442 pubmed
- Destro Bisol G. Genetic resistance to malaria, oxidative stress and hemoglobin oxidation. Parassitologia. 1999;41:203-4 pubmed
- Moscetti A, Boschi I, Dobosz M, Destro Bisol G, Pescarmona M, D Aloja E, et al. Fluorescence-based classification of microsatellites using a single-wavelength semiautomatic sequencer: genotype assignment and identity tests by analysis of comigrating peak profiles. Electrophoresis. 1995;16:1875-80 pubmed..Analysis of comigrating peak profiles is highly objective and provides convincing evidence for diagnostics and identity tests. ..
- Hall D, Ybazeta G, Destro Bisol G, Petzl Erler M, Di Rienzo A. Variability at the uridine diphosphate glucuronosyltransferase 1A1 promoter in human populations and primates. Pharmacogenetics. 1999;9:591-9 pubmed..Our findings are consistent with the proposal that the TA repeat variation is a balanced polymorphism...
- Destro Bisol G, Menchicchi F, Ranalletta D, Spedini G. EsD in Negro and Caucasian populations: is the EsD5 a 'Caucasian allele'?. Hum Hered. 1986;36:154-7 pubmed..018-0.138) and the absence of the EsD5 allele which, on the contrary, reached a polymorphic frequency (0.017) in the Italian sample. These results suggest that the EsD5 allele has a Caucasian origin. ..
- Ranalletta D, Destro Bisol G, Fucci N. The esterase D polymorphism by ultrathin layer isoelectric-focusing: frequency of the EsD5 allele in the population of Rome. Anthropol Anz. 1987;45:153-7 pubmed..The gene frequencies were found to be: EsD1 = 0.8451, EsD2 = 0.1363, EsD5 = 0.0186. These frequencies were compared with those reported in other populations. ..
- Destro Bisol G, Ranalletta D. Low voltage isoelectric focusing for the study of red cell acid phosphatase polymorphism: improved phenotyping and better agreement with the Hardy Weinberg distribution. Electrophoresis. 1988;9:106-8 pubmed..267; ACPl*B = 0.680; ACPl*C = 0.053), showed a good agreement between the observed and expected phenotype distribution (chi 2/2 = 1.35; 0.70 greater than p greater than 0.50). ..
- Battaggia C, Verginelli F, Palmirotta R, Mariani Costantini R, Cama A, Destro Bisol G. Variation of the insulin receptor substrate gene (IRS-1) in African Pygmies and Bantus. Diabetes Res Clin Pract. 2006;72:108-9 pubmed
- Batini C, Ferri G, Destro Bisol G, Brisighelli F, Luiselli D, Sanchez Diz P, et al. Signatures of the preagricultural peopling processes in sub-Saharan Africa as revealed by the phylogeography of early Y chromosome lineages. Mol Biol Evol. 2011;28:2603-13 pubmed publisher..These results open new perspectives on the early history of Homo sapiens in Africa, with particular attention to areas of the continent where human fossil remains and archaeological data are scant. ..
- Batini C, Coia V, Battaggia C, Rocha J, Pilkington M, Spedini G, et al. Phylogeography of the human mitochondrial L1c haplogroup: genetic signatures of the prehistory of Central Africa. Mol Phylogenet Evol. 2007;43:635-44 pubmed
- Destro Bisol G, Spedini G. Anthropological survey on red cell glutathione peroxidase (GPX1) polymorphism in central western Africa: a tentative hypothesis on the interaction between GPX1*2 and Hb beta *S allelic products. Am J Phys Anthropol. 1989;79:217-24 pubmed..Three different unusual GPX1 electrotypes are described. Finally, we hypothesize an interaction between GPX1*2 and Hb beta*S allelic products occurring in the sickle cells infected by Plasmodium falciparum. ..
- Fiori A, Pascali V, D Aloja E, Dobosz M, Destro Bisol G. First experience of individual fingerprints with human alpha globin 3'HVR probe. Acta Med Leg Soc (Liege). 1989;39:221-8 pubmed
- Caglià A, Tofanelli S, Coia V, Boschi I, Pescarmona M, Spedini G, et al. A study of Y-chromosome microsatellite variation in sub-Saharan Africa: a comparison between F(ST) and R(ST) genetic distances. Hum Biol. 2003;75:313-30 pubmed..On a theoretical ground, we propose that the lesser performance of R(ST) compared to F(ST) could be explained by the important role played by genetic drift in shaping the relationships among examined populations. ..
- Tofanelli S, Boschi I, Bertoneri S, Coia V, Taglioli L, Franceschi M, et al. Variation at 16 STR loci in Rwandans (Hutu) and implications on profile frequency estimation in Bantu-speakers. Int J Legal Med. 2003;117:121-6 pubmed..The introduction of a non-negligible bias was confirmed by calculating the differences between multiple-locus profile frequencies of western and eastern Bantoids using local and non-local reference databases. ..
- Verginelli F, Donati F, Coia V, Boschi I, Palmirotta R, Battista P, et al. Variation of the hypervariable region-1 of mitochondrial DNA in central-eastern Italy. J Forensic Sci. 2003;48:443-4 pubmed
- Milia N, Congiu A, Anagnostou P, Montinaro F, Capocasa M, Sanna E, et al. Mine, yours, ours? Sharing data on human genetic variation. PLoS ONE. 2012;7:e37552 pubmed publisher..By making the scientific community and the public aware of this important aspect, we may help popularize a more effective culture of data sharing. ..
- Coia V, Caglià A, Arredi B, Donati F, Santos F, Pandya A, et al. Binary and microsatellite polymorphisms of the Y-chromosome in the Mbenzele pygmies from the Central African Republic. Am J Hum Biol. 2004;16:57-67 pubmed..We suggest that this could be due to the higher phylogenetic stability of Y-chromosome and to the effect of the male-biased gene flow during the Bantu expansion. ..
- Destro Bisol G, Belledi M, Capelli C, Maviglia R, Spedini G. Genetic variation at the ApoB 3' HVR minisatellite locus in the Mbenzele Pygmies from the Central African Republic. Am J Hum Biol. 2000;12:588-592 pubmed..Am. J. Hum. Biol. 12:588-592, 2000. Copyright 2000 Wiley-Liss, Inc. ..