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31 Cards in this Set

  • Front
  • Back

Genomics

Study of whole sets of genes and their interactions

Bioinformatics

Application of computational methods to the storage and analysis of biological data

Human genome project

Started in 1990 and completed in 2003


Used whole genome shotgun approach and dideoxy chain termination method


Technology for faster sequencing

Whole genome shotgun approach

O

Metagenomics

DNA from a group of species in an environmental sample is sequenced


Making sense of massive amounts of data from many genome sequences has started new approaches


ie: get sample of gut bacteria and find out what’s there

Gene annotation

The identification of protein-coding genes within DNA sequences in a database


Largely an automated process


Comparing sequences of previously unknown genes with those of known genes may help provide clues about their function

Proteome

Entire set of proteins expressed by a cell or group of cells

Proteomics

Approach to studying large sets of proteins and their properties

Systems biology

Genes and proteins and their function integration in bio systems

Application of systems biology to medicine

Cancer genome atlas: comparing gene sequences and expression in cancer vs normal cells (ten types of cancers)


Gene chip is used to understand gene expression patterns in cancer patients

Genome size

There is no systematic relationship btw genome size and phenotype


Eukaryotic genomes tend to be larger


Genomes of most bacteria and archaea range from 1-6 million

Number of genes

Not correlated to genome size


Drosophila has 165 Mb and 14,000 genes


Humans have fewer than 21,000 (same as a worm) which is far off from what was predicted: 50,000-100,000

Transposons

Require enzyme, trabsposase to move by mean of DNA intermediate


Cut/paste or copy/paste like

Gene density and noncoding DNA

Number of genes per given DNA= density


Humans have lowest gene density in length of DNA or mega base (mb)


Eukaryotes Have many introns within genes and a large amount of noncoding DNA btw genes

Noncoding DNA-a lot of it

98.5% of human genome does not code for proteins


Gene regulatory sequences and introns account for 5% and 20% respectively

L1 sequences

Retrotransposons


Low rate of transposition and may effect gene expression


May play role in diversity of neuronal cell types


Do not see these until higher order animals like primates

Pseudogenes

Former genes


Accumulated mutations and no longer function


A part of unique noncoding dna-15%


ie: like old abandon house

Multigene families

Collection of two or more identical or very similar genes


1. Identical DNA sequences usually clustered tandemly (code for rRNA)


2. Nonidentical genes

What underlies much of genome evolution?

Mutations


Earliest forms of life likely had only those genes needed for survival and reproduction


Size of genomes has increased over time providing gene diversification

Polploidy

Extra set of chromosomes


Accidents in meiosis can lead to this


Can lead to divergence of sets by accumulating mutations


Genes with novel functions can survive

Alterations of chromosomes structure

Humans have 23 chromosomes, while chimps have 24 bit pir chromosomes are similar so at some point separated from same ancestor


Duplications and inversions result from mistakes during meiotic recombination

Transposons

Require enzyme, trabsposase to move by mean of DNA intermediate


Cut/paste or copy/paste like

Retrotransposons

Move by means of RNA intermediate


Uses a reverse transcriptase enzyme (takes RNA and reads it back to make DNA)

Alu elements

Transcribed into RNA molecules


May play a role in gene regulation

L1 sequences

Retrotransposons


Low rate of transposition and may effect gene expression


May play role in diversity of neuronal cell types


Do not see these until higher order animals like primates

Other repetitive DNA

About 5-6% of human genome consist of duplication long sequences of DNA from one location to another


In contrast, simple sequence DNA contains many copies of tandemly repeated short sequences

Multigene families

Collection of two or more identical or very similar genes


1. Identical DNA sequences usually clustered tandemly (code for rRNA)


2. Nonidentical genes

Junk DNA

The DNA that does not code for proteins


Play important role due to having high level of sequence suggesting that they would have not survived evolution if they didn’t have a role

Transposable elements

Stretched of DNA that can move from on location to another within the genome


Jumping genes


About 75% of human repetitive DNA is made of these

Alterations of chromosomes structure

Humans have 23 chromosomes, while chimps have 24 bit pir chromosomes are similar so at some point separated from same ancestor


Duplications and inversions result from mistakes during meiotic recombination

Eukaryotic transposable elements 2 types

Transposons and retrotransposons