HUMAN GENOME

BY NALINI RANJAN

AN OVERVIEW
Complete set of human genetic information

BY WHOM
HGP-HUMAN GENOME PROJECT(2003) PRODUCED THE FIRST COMPLETE SEQUENCES OF INDIVIDUAL

AS OF NOW THOUSANDS OF HUMAN GENOME HAVE BEEN SEQUENCED

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

CODING VS NON CODING DNA

CODING DNA :TRANSCRIBED INTO MRNA &TRANSLATED INTO PROTEINS DURING HUMAN LIFE CYCLE WELL STUDIED AND BEST UNDERSTOOD COMPONENT OF HUMAN GENOME BUT OCCUPY ONLY A SMALL FRACTION OF HUMAN GENOME

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

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

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 "serves some purpose, biochemically speaking"

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 study and 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 in sequence analysis is the automatic search for genes and regulatory sequences within a genome.

Contd.
Determining the similarity of two sequences is not as easy as you might think. For example, it was recently reported that the genomes of humans and chimpanzees are 96 percent similar.

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

SIGNIFICANCE

Worldwide use in biomedical science , anthropology , forensics & other branches of science

Genomic studies will lead to advances in the diagnosis & treatment of diseases

REFERENCES:
The ENCODE Project Consortium (2012). "An integrated encyclopedia of DNA elements in the human genome". Nature 489 (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.