The Italian delegation of Science on Stage 2

A Bioinformatic Gene Hunting Workshop

Abstract

First part: what are Bionformatic databases and how to use them

In this activity we will learn how to explore the human genome, retrieving information from biomedical databases available online. We will discover the correspondence existing between human chromosomes and those of other species, and how to find a gene within genomes and identify its structure and function. In this handbook, you can find the main sites for information about the human genome, (and for other organisms) and about genes.

Second part: Gene Hunting

Goals of this activity

• to identify the gene to whom an unknown DNA sequence (probe) belongs;
• to identify the chromosomal region where the gene is located;
• to define the exon-intron structure of the gene and obtain the complete cDNA sequence, i.e. the coding sequence;
• to identify the main features of the cDNA molecule, and draw a scheme in which the nucleotide positions of the start codon, the stop codon and the polyadenylation signals are shown;
• to translate the cDNA molecule into the corresponding protein;
• to obtain informations on the 3D structure of the protein;
• to learn how to correlate a gene mutation with a disease.

The aim of this practical is to teach how it is possible, via online biological databases, starting from a partial human DNA sequence, to identify the gene to which it belongs, identify differences between this sequence and the normal sequence, obtain detailed informations about the protein codified by this gene and on its expression pattern, i.e. the tissues in which this gene is expressed.

Moreover, information can also be retrieved about the disorders associated with alterations of the gene.

You are given a partial DNA sequence (probe) and with it you have to fish the corresponding gene. You will succeed in finding the needle in the haystack!

Description

The description of the project is reported in this presentation and in the related website.