Chapter 1- introduction to genomics Flashcards
How many base pairs does the human genome consist of
3,2 x 10 9 base pairs distributed amoung 22 pairs of autosomes and 1 pair of sex chromosomes
define a genome
all the genetic material of an organism. In humans there is nucleic and mitochondrial and in plants there is nucleic, mitochondrial and chloroplast
Define genomics
Study of genomes
How many protein coding genes are there in the human genome
about 23000
What are the static and dynamic components of the genome
The static component is the one that stays constant, it is the microbiome(the bacteria within and on our bodies) and the dynamic component is the regulatory interactions which integrates the activities of individual components
What is the phenotype equation
Phenotype= genotype+ environment+life history+ epigenetics(genotypexlife experiences)
Define phenotype
collection of observable traits- macroscopic, eg. hair, height and microscopic eg. whether the individual has a possibility of having sickle cell anemia
Define genotype
genetic constitution, your DNA sequence(both nucleic and mitochondrial)
What is pharmacogenomics
The personalized prevention and treatment of diseases based on DNA sequences
Define life history
The integrated total of your experiences and the physical and psychological environment in which you grew up. Physical development depends on your nutritional history and your mental development depends on your educational history and nurture you were given. As well as your in utero environment
Define environment
Anything other than the gene that is being looked at, including other genes
Epigenetic factors
Genotype x life experiences- Your parents might have altered the epigenetic patterns in their cells and caused “pre-differentiation” signals which might have passed on to you. Another example is that all cells, except for eggs, sperm and immune cells, have the same DNA sequence. But, different sets of genes are expressed and silenced in different parts of the body
Does the genome determine the features of an organism
No, the genome constraints but does not determine the features of an organism
What leads organisms to explore different states within their genome, provide an example
Different surroundings and experiences, eg. the lac operon in E-coli
Give an example of how environmental effects have long-term effects on development
Exercise contributes towards your physical development, a diet rich in phenylalanine can prevent the development of phenylketonuria. Also malnutrition, disease, and injury affects your development negatively
How have researchers measured the importance of the different factors that contribute to a phenotype
Controlled experiments with genetically identical organisms, in humans monozygotic twins. Scientists compare individuals with the same genes but have been exposed to different environments. Other less controlled studies include, comparisons between identical and fraternal twins or non-twin siblings with adopted children in the same family. In plants they used clones.
What new piece of information regarding monozygotic twins changes the method used to measured the importance of the different factors that contribute to a phenotype
Their DNA was found to be different, due to mutations and this caused variation at the DNA level
List the differences in genome organization in a prokaryotic cell vs. a eukaryotic cell for the following features: size, subcellular division, state of genetic material, cell division method, internal differentiation that contains DNA
Prokaryotic cell: 10 um, no nucleus, circular loop with a few proteins attached (nucleiod), fission, none.
Eukaryotic cell: 0.1mm, nucleus, chromosomes, mitosis or meiosis, nuclei, mitochondria, ER. golgi complex, cytoskeleton
Name and describe the functional regions of genes
1.) Protein-coding regions: 3 bases code for 1 amino acid, any nucleic sequence can be translated into an amino acid sequence in 6 ways (TGA, from T or G or A= forwards and backwards). A protein-coding region will contain open reading frames in one of six reading phases. An ORF is a potential protein-coding region of about 100 bp that begins with a start codon(AUG) and ends with a stop codon( TAA, TGA, or TAG).
In prokaryotes, a gene is a contiguous region of DNA. In eukaryotes, the coding regions of genes(exons) may be interrupted by non-coding regions called introns, which must be removed to form mature mRNA that specifies the amino acid sequence of the protein.
2.) some regions are expressed as non-protein coding RNA: they will show regions of local self-complementary corresponding to hairpin loops, eg. the genes for tRNA contains the signature cloverleaf pattern
3.) other regions are targets of regulatory interactions (motifs eg. TATA)
Is gene identification easier in prokaryotes or eukaryotes and why
Its easier in prokaryotes because prokaryotic genes are smaller and contain fewer genes, genes in bacteria are contiguous- they lack introns, the intergene spaces are smaller(90% of genes in E-coli are protein-coding), ribosome binding sites are conserved. Also, protein-coding genes in eukaryotes are sparsely distributed and interupted by introns. Assembling exons are a problem
What are the 2 basic approaches to identifying genes in genomes
- ) a priori methods- seek to recognize sequence patterns within expressed genes and the genes on either side of them. Protein-coding regions have distinctive patterns of codon statistics, including the absence of stop codons
- ) ‘been there, seen that’ methods- recognize regions corresponding to previously known genes, from the similarity of their translated amino acid sequences to known proteins in other species or by matching expressed sequence tags
List the characteristics that are useful in identifying eukaryotic genes
> The initial(5’) exon starts with a transcription start point, followed by a core promoter site(about 30bp upstream). It is free of in-frame stop codons and ends immediately before a GT spice signal (sometimes a non-coding exon precedes the exon that contains the initiator codon)
Internal exons are free from in-frame stop codons. They begin immediately after an AG splice signal and end before a GT splice signal
The final(3’) exon starts immediately after an AG splice signal and ends with a stop codon (sometimes a non-coding exon follows a follows the exon that contains the stop codon)
All coding regions have non-random sequence characteristics, based partly on codon usage preferences. Hexanucleotides are best when distinguishing coding from non-coding regions. Also, using a set of known genes from an organism as a reference, pattern recognition programs for gene recognition can be tuned to particular genomes
Are the static and dynamic aspects of the human genome similar in general features to other species genomes
Yes
Which 2 directions is the field of genomics progressing as genome sequencing techniques become easier
- ) to determine more and more human genome sequences, especially those that are useful for research of diseases
- ) many different species have had their genomes sequenced for at least 1 individual
Why are the sequences of non-human genomes available publicly, but human genome sequences are not
It is a matter of privacy
Why do we sequence non-human genomes
They reveal information about the process of evolution and they help us to understand the function of different regions in the human genome
What is the important principle behind evolution and how does this apply to sequencing non-human genomes
If evolution conserves something it is essential and if it does not conserve something it is not essential. When looking at the human genome, about 98% is not protein-coding or non-coding RNA; therefore in order to understand its functions we need to compare it to other mammalian genomes. If it is conserved there must be a reason
Give an example of how genomes of other species have a direct application to human welfare
The genomes of pathogens that have developed antibiotic resistance can give us clues as to what we can do to combat this and keep ahead of them
List some of the other practical applications for sequencing non-human genomes
Improving agriculture and domesticated animals, biotechnological applications, the conservation of endangered species
What is metagenomic data
These are sequences determined from environmental samples, without isolating individual organisms, eg. water, soil
What are some of the clinical applications of sequencing human genomes
Genetic testing: prospective parents who want to find out if their carriers for cystic fibrosis; many woman test for potentially dangerous mutations in genes BRCA1, BRCA2 and PALB2, which can predispose an individual to cancer- usually carried out when family history suggests an increased risk.
Law enforcement agencies determine DNA sequences using samples from crime scenes
Does a genome belong to a species or a single organism
A single organism
Why is it essential to relate genomes to one another
To see life holistically and clearly
How do we study the genomes within species
We study genetic variation within and among populations
Give some examples of the applications of sequence variations in humans
Medicine, anthropology, to trace migration patterns, in genealogy, in personal identification to prove that someone is a parent or in a crime investigation
Give some examples of the applications of sequence variations in other species
Understanding the history of these species including the domestication of animals and crop plants and guiding efforts to enhance desirable traits
How does any two people differ in terms of their genome
Any two people (except identical twins) have genomic sequences that differ at 0.1% of the positions (mutations)
What does comparing the genomes of human allow us to learn about this 0.1% variation
It allows us to distinguish between random components of this variation and the variation that used to characterize different populations
Can mutations be consistent with a healthy life and one with a long lifespan
Yes