Genomics and genome projects Flashcards
lecture 14 + 15
What was the primary goal of the Human Genome Project (HGP)?
The goal of the HGP was to map and sequence the entire human genome, which consists of 3 billion base pairs, identifying about 20,000-25,000 genes.
What were the Bermuda Principles in the context of the Human Genome Project?
The Bermuda Principles stated that the information from the Human Genome Project should be freely available and placed in the public domain within 24 hours of being generated.
What are some reasons for sequencing the genome?
Sequencing the genome helps understand the blueprint of life, including coding and noncoding sequences, regulatory sequences, chromosome maintenance, and allows for comparative genomic studies.
Why are model organisms used in genomic research?
Model organisms have small genomes, are easy to manipulate, and provide valuable information about fundamental biological processes. They are also useful in technology development and comparative genomics.
How did genome sequencing help in the investigation of the 2011 E. coli outbreak?
Genome sequencing of the E. coli strain revealed a new pathotype with features from both EAEC and EHEC strains, providing insight into its antibiotic resistance, virulence, and how it targeted adults.
What was the outcome of sequencing the genome of Yersinia pestis from the Black Death?
Sequencing the Y. pestis genome from victims of the Black Death (1347-1351) revealed that modern-day ancestors have no unique genetic differences, suggesting that other factors contributed to the increased virulence during the pandemic.
What are some major challenges in identifying genes within a genome?
Challenges include determining valid open reading frames (ORFs), identifying RNA splice sites, and understanding the function of genes and regulatory elements, as many genes remain uncharacterized.
What were some major outcomes of the Human Genome Project?
The HGP provided a detailed map of the human genome, advanced sequencing technologies, identified disease-associated genetic variants, and fostered global collaboration, leading to resources like the Ensembl genome browser.
What are some limitations of genomic sequencing?
Limitations include incomplete coverage of complex genomic regions, genetic variation between individuals, and the difficulty in understanding the function of every gene and regulatory element.
Why is the genome of Saccharomyces cerevisiae (baker’s yeast) useful for genomics studies?
The genome of S. cerevisiae is smaller, tightly packed with genes, and lacks extensive repetitive DNA. This simplicity aids in gene identification and functional analysis, although challenges remain, with 10% of its genes still uncharacterized.
How did the Human Genome Project advance research and medicine?
The HGP laid the foundation for precision medicine, gene therapy, genetic screening, and pharmacogenomics. It also spurred large-scale projects like The Cancer Genome Atlas and the 1000 Genomes Project.
What is the role of model organisms in genomics research?
Model organisms like S. cerevisiae and S. pombe are used to predict protein function, localization, domains, regulatory sequences, and to study human diseases.
How can comparative genomics help in understanding human diseases?
By identifying homologous genes in model organisms, such as yeast, we can study human diseases (e.g., MSH2 gene for colon cancer, CFTR gene for cystic fibrosis).
What does the BLAST tool do in genomics research?
BLAST is used to find homologous genes across species by comparing sequence similarity, helping to identify genes involved in diseases.
What information does PSORTII provide?
PSORTII predicts the cellular localization of proteins based on their sequence, helping to determine where a protein, like Yox1, functions within the cell.
