Genome Duplication Flashcards
How big is the human genome
What is the c paradox
What are the percentages of coding and non coding dna in the human genome
Whats the most common way to make new genes
What is the impact of gene duplication
What are pseudogenes
What are paralogues
What are orthologues
What is concerted evolution
Why is gene duplication good
What is sub functionalisation of genes
What is meant by synteny
Give the history of the study of genome sequencing
What are the 2 human genome projects
What did Craig venter do
What was the results of the 2 human genome projects
What does ENCODE do
What are the different transposable elements that make up the human genome
How do we infer conservation of genomic elements across species?
What are orthologues good for
What does conservation in coding gene sequences imply
Implies conservation in functionality
Does conserved cis regulatory elements mean conserved function
No it does not mean conserved function
What does the fact that enhancers with conserved sequences across species may not always have the same function show
The majority of human enhancers has
functionality NOT conserved across mammals
How similar are human and chimp genomes
98% similar
How similar are human and mice genomes
What is LUCA
What are molecular clocks and what are the used for
What an rate of mutation info be used for
What is the mitochondrial eve
How can a genome acquire new genes
How can gene duplication occur during dna replication
Explain trypsin and chymotrypsin as an example of subfunctionalism
Name the two types of pseudogenes
Non processed pseudogenes
Processed pseudogenes
Explain what is meant by non processed pseudogenes
Explain what is meant by processed pseudogenes
Give an example of psuedogenes
What are multigene families *
Multigene families are groups of related genes within an organism’s genome that share a common origin and often similar DNA sequences. These genes likely arose from a single ancestral gene that duplicated over evolutionary time
What are HOX transcription factors main role
What is the homeodomain of HOX proteins
Where is the normal antennapedia gene expressed
Insects have one cluster of Hox genes (8 genes)
What can a mutation is the antennapedia gene cause + homeotic meaning
What are the two gene clusters that the 8 major HOX genes (in drosophila) are found in called
How many HOX gene clusters do humans have
What can mutations in the following genes respectively cause ; HOXD13, HOXA2, HOXB1
Deformed toes/fingers
Deformed ears
Variable Ear, Hearing, and Skeletal/Brain Anomalies
1) What is thought to be the HOX vertebrate common ancestor
2) What is the oldest known animal with 4 HOX gene clusters
2) Sea lamprey
What effects could larger/ entire genome duplication have on an organism
What is polyploidy and in what organisms are they commonly found in
Multiple complete sets of
chromosomes
Name the two types of polyploidy
- ‘Autopolyploidy’ (‘Auto’ = same)
- ‘Allopolyploidy’ (‘Allo’ = other)
What is autopolyploidy
Autopolyploidy is a type of polyploidy (having more than two sets of chromosomes) that occurs when an organism has multiple copies of chromosomes from the same species
What are the issues with autopolyploidy
What is allopolyploidy
What are the benefits of whole genome duplication
What is a locus?
Each gene has a locus, which is a specific position on a pair of homologous chromosomes
What is an allele?
( Ignore red writing - incorrect . Meant to say chromosome. Bands on chromosome is the allele)
What is the meanings of : genotype, heterozygous, homozygous, dominant and recessive alleles, phenotype
A phenotype is the physical manifestation of a genotype. (Physical trait)
What is an SNP
Why are SNPs important
Where can SNPs occur and what is the effect of an SNP appearing in that location
What are the two categories that diseases associated with SNPs fall into
What are coding SNPs and what are the two types
Explain the two types of substitutions
What are the two types of Alzheimer’s
What alleles are associated with Alzheimer’s and their risk levels for developing Alzheimer’s
What are non coding SNPs
What is the OAS1 gene associated with
What could happen if a splice site is disrupted due to an SNP
What could indel mutations cause
What are Genome Wide Association Studies (GWAS)
How are Genome Wide Association Studies (GWAS) findings visualised
What are the aims of genome projects
What are the challenges of GWAS
What is meant by linkage disequilibrium and how does it relate to GWAS
What are eQTLs and how do they relate to GWAS
Integrating GWAS with gene expression data is now largely routine
The association between GWAS and eQTL identified SNPs can lead to identification of disease causing genes
What are cis and trans eQTLs
Explain one way SNPs can be studied
