after 13 years of scientist work predominatly in usa & uk the dna sequence of the human genome...

After 13 years of scientist work predominatly in USA & UK the DNA sequence of the human genome was completed in 2003

Any ideas how they did it?

What would they need?

Why did they do it?

Human Genome

• Read p63 case study, to help you understand this watch this –

• Find out more on http://www.yourgenome.org

Making bits of DNA, so need a template DNA strand, bases (tagged), primer, RNA polymerase, then seperated through electrophoresis. Looked at small sections. For information eg 300 disease causing genes identified!

Learning Outcomes

• Examine arguments for Pure research vs. Applied research

• Define what a genome is • Explain the human genome project and

relate it to individuals/progress• Explain bioinformatics use in genetic

mapping• Uses of genetic mapping of species in

systematics

3 makes family!

• Get yourselves in pairs with someone with the same colour

• Find another 2 groups of each colour

• You only have 12 minutes – so concise bullet points!

• Each group will be

investigating .....

Success Criteria and information

Genome Bioinformatics Systematics

p63-65 P66-67 P67-68

Definition of genome, genomics, SNP,

Definition of bioinfomatics

Definition of systematics,

Process for identifying differences

Process for finding genes?

Out of Africa theory explained

Example of use Example Example

Human Genome Definitions

• Genomics is the study of a genome• Genome is entirety of an organism's

hereditary information (DNA sequence)• DNA sequence - the sequence of bases can

be determined for individual genes and entire genomes.

• How do you think the DNA sequence will be if you compared it to someone else on your table?

Single nucleotide polymorphism (SNP)

• A variation in the DNA sequence that affects a single base pair in DNA chain is called a SNP.

• These SNP is how an individual is different to one another.

• Race is now on to try to map SNPs – idea that some individuals who all get a disease might all have the same SNP.

eg Alzheimers ApoE protein gene ApoE2/3/4 (alpoliopoprotein), if amino acid for 4 is arginine increased chance of Alzeimers, if ApoE2 is cysteine less likely to develop disease.

Information on SNPs?

• 3 billion nucleotide bases! Some genes/ some “junk” /intron etc.

• How would you collate all this data?

• What would you look for?

• Find a trend/relationship between disease and SNP frequency?

Bioinformatics

• Bioinformatics - Fusion of molecular biology and statistical analysis by computers. Advantages that can be shared over internet and enormous amounts of data stored then analysed.

• 3 ways in which to narrow the search;– Identifying base sequences that correspond to the amino

acid sequence of a protein. (protein-coding sequences)– Identifying gene sequences by examining start sequences

for a similar gene

– Identifying gene sequences by examining places which lack

a stop codons (higher chance these are genes)

What’s the relationship?

Put these into a classification

tree, what information will you

use?

Use appearance and anatomy …Put these into a classification

tree, what information will you

use?

Extension ; Why classify?

• More information such as development of young was used to try to distinguish ......

No

Latest development is molecular, with DNA ,

put these sequences in order of “relatedness”

1

2

3

4

1

2

3

4

DNA does it again!

• In the advent of DNA the previous matches / classification was changed.

• Comparison of human genome sequence data (and genomes of other species) provides information on evolutionary relationships and origins.

• Systematics is the study of a group of living things in respect to their diversity, relatedness and classification.

Similar genomes and evolution• DNA can be highly

conserved – very similar which can be determined to show close or distant relationships

• Chimpanzee is 98.5%

similar to a human

– a common ancestor!

Out of Africa theory

• Most species vary ~ 5%, humans only 0.3%!

• Greatest variation in Africa, which supports “out of Africa” theory

• DNA also found in mitochondria support this theory

• Humans originated in Africa and underwent early evolutionary divergence to form genetic differences before moving continents

Pure vs. Applied Research

• Difference between the two; – pure research is the fundamental to expand

knowledge, curiosity driven (eg. start of universe / human genome)

– applied research is focus on problems/practical solutions and driven by improving human condition (eg. Cancer research/energy crisis)

• Debate in science and funding committees the use/relevance of pure research as it is now to do with public outreach too.

• You have £1.5 million – who would you give it to?

Genomic achievements since the Human Genome Project.Which do you think is the greatest ?