Scribd
Upload
32 views13 pages

What Is The Human Genome?

The human genome refers to the complete set of DNA within human cells. It contains approximately 3 billion nucleotide base pairs that make up the 46 chromosomes found in nearly every human cell, including 22 pairs of autosomes and one pair of sex chromosomes. The genome encodes over 30,000 genes that are involved in making proteins, as well as non-coding sequences that regulate gene expression. Sequencing the human genome provides insights into human evolution, biology, disease diagnosis and treatment.

Uploaded by

Rahul Thakur
Copyright
© Attribution Non-Commercial (BY-NC)
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPT, PDF, TXT or read online on Scribd
32 views13 pages

What Is The Human Genome?

The human genome refers to the complete set of DNA within human cells. It contains approximately 3 billion nucleotide base pairs that make up the 46 chromosomes found in nearly every human cell, including 22 pairs of autosomes and one pair of sex chromosomes. The genome encodes over 30,000 genes that are involved in making proteins, as well as non-coding sequences that regulate gene expression. Sequencing the human genome provides insights into human evolution, biology, disease diagnosis and treatment.

Uploaded by

Rahul Thakur
Copyright
© Attribution Non-Commercial (BY-NC)
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPT, PDF, TXT or read online on Scribd
You are on page 1/ 13

What is the Human Genome?

Genes carry the information for making all of the proteins required by the body for
growth and maintenance.
 
The genome also encodes rRNA and tRNA which are involved in protein synthesis.  
 
• The nuclear genome comprises
approximately 3,20,00,00,000 nucleotides of
DNA, divided into 24 linear molecules.

• These 24 chromosomes consist of 22


autosomes and the two sex chromosomes, X
and Y.
• Made up of ~30,000-40,000 genes which code for functional
proteins in the body.

• Includes non-coding sequences located between genes, which makes


up the vast majority of the DNA in the genome (~95%).

• The particular order of nucleotide bases (As, Gs, Cs, and Ts)
determines the amino acid composition of proteins.  
 
 

* Information about DNA variations (polymorphisms) among


individuals can lend insight into new technologies for diagnosing,
treating, and preventing diseases that afflict humankind.  
 
 
Goals Established for the Human
Genome Project When it Began in
1990? 
  Identify all of the genes in human DNA.

 Determine the sequence of the 3 billion chemical nucleotide bases that make up human DNA.

 Store this information in data bases.

 Develop faster, more efficient sequencing technologies.

 Develop tools for data analysis.

 Address the ethical, legal, and social issues (ELSI) that are arise from the project.
 
 
 
 
Two Different Groups Worked to Obtain the DNA
Sequence of the Human Genome 

• The HGP is a multinational consortium established by government research agencies and funded
publicly . Collaboration involving 20 groups from the United States, the United Kingdom, Japan,
France, Germany and China to produce a draft sequence of the human genome.
• Celera Genomics is a private company whose former CEO, J. Craig Venter, ran an independent
sequencing project.

• Differences arose regarding who should receive the credit for this scientific milestone .

• February 2001, the HGP and Celera Genomics separately published draft of the human genome
• April 2003: HGP sequencing completed; project declared finished.
 
 
 
 
Some important observations
Some important observations
Some important observations
Some important observations
• There appear to be about 30,000-40,000 protein-coding genes in the human
genome. Only about twice as many as in worm or fly.

• The genomic landscape shows marked variation in the distribution of a number of


features, including genes, transposable elements, GC content, CpG islands and
recombination rate.

• The mutation rate is about twice as high in male as in female meiosis, showing that
most mutation occurs in males.

• Hundreds of human genes appear likely to have resulted from horizontal transfer
from bacteria at some point in the vertebrate lineage.
• 497 transfer RNA genes. One large cluster contains 140 tRNA genes within a 4 Mb
region on chromosome 6.
• Genes for 28S and 5.8S ribosomal RNAs appear in a 44-kb tandem repeat unit of
150–200 copies.
Some important observations
• Almost all (99.9%) nucleotide bases are exactly the same in all people.

•  The functions are unknown for over 50% of discovered genes.

• Stretches of up to 30,000 C and G bases repeating over and over often occur
adjacent to gene-rich areas, forming a barrier between the genes and the "junk
DNA." These CpG islands are believed to help regulate gene activity.

• Chromosome 1 has the most genes (2968), and the Y chromosome has the fewest
(231).

• Repetitive sequences are thought to have no direct functions, but they shed light on
chromosome structure and dynamics. Over time, these repeats reshape the genome
by rearranging it, creating entirely new genes, and modifying and reshuffling
existing genes.

You might also like