The human genome: structure, function and principal molecular markers. Paleogentics and paleogenomics. Ancient DNA from archaeological and paleontological remains. Criteria necessary to support the authenticity of DNA sequences retrieved from ancient specimens. The laboratory of paleogenetics. Molecular methods in paleogenetics. Outlines of bioinformatics methods for reconstruction of consensus sequences. Ancient DNA in the study of human evolutionary history.
David Caramelli 2009. Antropologia Molecolare - Manuale di base. Firenze University Press
David Caramelli & Martina Lari 2004. Il DNA antico: metodi di analisi e applicazioni. Angelo Pontecorboli
Learning Objectives
Knowledge acquired:
Structure of human genome; molecular evolution; genetic analyses on ancient and degraded biological remains for evolutionary studies on human samples and applications (e.g. forensics).
Competence acquired:
DNA extraction, quantification, amplification and sequencing from human remains; principles of Next Generation Sequencing; outlines of bioinformatics for reconstruction and analysis of genomic sequences from ancient samples.
Skills acquired (at the end of the course):
Workflow from the fossil to the molecule; using of innovative bimolecular technologies to characterize ancient genomes in both evolutionary and applicatory studies such as forensics
Prerequisites
Courses to be used as requirements (required and/or recommended)
Total hours of the course (including the time spent in attending lectures, seminars, private study, examinations, etc...): 150
Hours reserved to private study and other individual formative activities: 100
Contact hours for: Lectures (hours): 46
Contact hours for: Laboratory (hours): 4
Further information
Frequency of lectures, practice and lab:
4 hour of lessons per week; Highly recommended.
Molecular Anthropology: an overview. Structure of the human genome; variability and principal markers (SNPs, STRs). Molecular evolution.
Human mitochondrial DNA. Structure and inheritance. Use of mitochondrial DNA in molecular anthropology. Molecular clock. Human mitochondrial phylogenetic tree and haplogroups.
Paleogenetics and ancient DNA: potentialities and limitations. Characteristics of ancient DNA. The contamination. Criteria of authentication of the results. Paleogenetic lab’s organization and workflow of an ancient DNA study.
Molecular technologies for the analysis of ancient DNA: samples preparation; DNA extraction; PCR and molecular cloning; Sanger sequencing; software for sequence data analysis and determination of consensus sequences. Next Generation Sequencing (NGS): principles and platforms; library preparation; quantification by realtime qPCR; hybridization capture of the mitochondrial genome by biotinylated probes; outlines of bioninformatic workflow for mitochondrial genome reconstruction.
Ancient DNA and human evolution. Genetic variability of Neandertals and implications for modern humans origin. Neandertals phenotype. From paleogenetics to paleogenomics. Neandertals and Denisovians genomes. Interbreeding between ancient hominids and implications for modern human genome evolution.
Genetic history of Europe. The contribute of modern and ancient DNA. Tracing the first settlement of Europe by anatomically modern humans. Paleolithic-Mesolithic-Neolithic transitions by a genetic perspective. Study of domestication processes of plant and animals. Ancient population genetics.
Outlines of forensic genetics. Panels of STRs from autosomes and Y chromosome for personal identification. Principles of molecular typing: multiplex PCR and capillary electrophoresis. Random match probability.