Bio Info Seminar

7/31/2019 Bio Info Seminar

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HUMAN GENOME

BY

NALINI RANJAN


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AN OVERVIEW

Complete set of

human genetic

information


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BY WHOM

HGP-HUMAN GENOME PROJECT(2003)

PRODUCED THE FIRST COMPLETE

SEQUENCES OF INDIVIDUAL

AS OF NOW THOUSANDS OF HUMAN

GENOME HAVE BEEN SEQUENCED


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WHAT ACTUALLY IS

HUMAN GENOME =PROTEIN CODING

SEQUENCES(1.5%)

REST IS NON CODING RNA

MOLECULES,REGULATORY DNA

SEQUENCES & SEQUENCES TO WHICH

NO FUNCTION HAS YET BEEN ASSIGNED


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CODING VS NON CODING DNA

CODING DNA :TRANSCRIBED INTO MRNA

&TRANSLATED INTO PROTEINS DURING

HUMAN LIFE CYCLE

WELL STUDIED AND BEST UNDERSTOODCOMPONENT OF HUMAN GENOME

BUT OCCUPY ONLY A

SMALL FRACTION OFHUMAN GENOME
http://www.genome.gov/EdKit/bio2h.htmlhttp://www.genome.gov/EdKit/bio2h.html


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NON CODING DNA

MADE UP OF ALL THOSE SEQUENCES THAT ARE NOT

USED TO ENCODE PROTEINS

SOME OF THEM CONTAINS RNA MOLECULES WITH

IMPORTANT BIOLOGICAL FUNCTIONS

(non coding rna like ribosomal & transfer rna)

THE EXPLORATION OF THE FUNCTION AND

EVOLUTIONARY ORIGIN OF NON CODING DNA IS AN

IMPORTANT GOAL OF CONTEMPORY GENOME

RESEARCH


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CONTD

NUMEROUS CLASSES OF NON CODING DNA

INCLUDE

PSEODOGENES,INTRONS,UNTRANSLATED

REGIONS OF mRNA , regulatory DNA sequences,repetitive DNA sequences & sequences related to

mobile genetic element


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CONTD

Iniatially reffered to as JUNK DNA but The

Encyclopedia of DNA Elements (ENCODE)

project reported in September 2012 that over

80% of DNA in the human genome "servessome purpose, biochemically speaking"


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WITH THE HELP OF BIOINFORMATICS ONLY

Bioinformatics involves both biology as well as computer .

Human genome project involves gene splicing ,analysis of

sequences etc. The bioinformatics provides various tools or

programs or in other words its a kind of dry lab

method(using computer softwares ) undergone for the studyand analysis of genome present in an organism . computer

programs are used to search the genome of thousands of

organisms, containing billions of nucleotides , including

human genome. Another aspect of bioinformatics insequence analysis is the automatic search for genes and

regulatory sequences within a genome.


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Contd.Determining the similarity of two sequences is not as easy as

you might think. For example, it was recently reported that thegenomes of humans and chimpanzees are 96 percent similar.


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STILL REQUIRED

We can read the human genome by DNA

sequencing , yet it is not fully understood

Biological functions of their proteins and RNA

products are to be known

Biochemical activities of non coding DNA like

regulation of gene expression are the areas

of great concern for scientists


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SIGNIFICANCE

Worldwide use in biomedical science ,

anthropology , forensics & other branches of

science

Genomic studies will lead to advances in the

diagnosis & treatment of diseases


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REFERENCES:

The ENCODE Project Consortium (2012).

"An integrated encyclopedia of DNA

elements in the human

genome". Nature489 (7414): 5774.

"About the Human Genome Project: What is

the Human Genome Project". The Human

Genome Management Information System(HGMIS). 2011-07-18. Retrieved 2011-09-02.


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