Biology SALIENT FEATURES OF HUMAN GENOME AND FURTHER APPLICATIONS

KEY TOPICS

`star` Salient features of Human genome
`star` Applications and Future Challenges

SALIENT FEATURES OF HUMAN GENOME

● Some of the `color{VioletBrown}"salient observations"` drawn from human genome project are as follows:

(i) The human genome contains `color{Violet}"3164.7 million"` nucleotide `color{Violet}"bases"`.

(ii) The average gene consists of `color{Violet}"3000 bases"`, but sizes vary greatly, with the `color{Violet}"largest"` known human gene being `color{Violet}"Dystrophin"` at `color{Violet}"2.4 million bases"`.

(iii) The total number of genes is estimated at `color{Violet}"30,000"`–much lower than `color{Violet}"previous estimates"` of 80,000 to 1,40,000 genes.

(iv) Almost all (`color{Violet}"99.9 per cent"`) nucleotide bases are `color{Violet}"exactly the same"` in all people.

(v) The `color{Violet}"functions are unknown"` for over `color{Violet}"50 per cent"` of discovered genes.

(vi) `color{Violet}"Less than 2 per cent"` of the genome codes for `color{Violet}"proteins"`.

(vii) `color{Violet}"Repeated sequences"` make up very `color{Violet}"large portion"` of the human genome.

(viii) `color{Violet}"Repetitive sequences"` are stretches of DNA sequences that are `color{Violet}"repeated many times"`, sometimes hundred to thousand times.

(ix) They are thought to have `color{Violet}"no direct coding functions"`, but they shed light on `color{Violet}"chromosome structure"`, `color{Violet}"dynamics"` and `color{Violet}"evolution"`.

(x) `color{Violet}"Chromosome 1"` has most genes (`color{Violet}"2968"`), and the `color{Violet}"Y"` has the fewest (`color{Violet}"231"`).

(xi) Scientists have identified about `color{Violet}"1.4 million locations"` where single base DNA differences (`color{Violet}"SNPs"` – `color{Violet}"single nucleotide polymorphism"`, pronounced as `color{Violet}"snips"`) occur in humans.

● This information promises to `color{Violet}"revolutionise"` the processes of finding `color{Violet}"chromosomal locations"` for `color{Violet}"disease-associated sequences"` and `color{Violet}"tracing human history"`.


APPLICATIONS AND FUTURE CHALLENGES

● Deriving `color{Violet}"meaningful knowledge"` from the DNA sequences will `color{Violet}"define research"` through the coming decades leading to our `color{Violet}"understanding of biological systems"`.

● This enormous task will require the `color{Violet}"expertise and creativity"` of tens of thousands of scientists from varied disciplines in both the `color{Violet}"public and private sectors"` worldwide.

● One of the greatest impacts of having the `color{Violet}"HG sequence"` may well be enabling a `color{Violet}"radically new approach"` to biological research.

● In the past, researchers studied `color{Violet}"one or a few genes"` at a time.

● With `color{Violet}"whole-genome sequences"` and `color{Violet}"new high-throughput technologies"`, we can approach questions systematically and on a much broader scale.

● They can study all the genes in a genome, for example, all the `color{Violet}"transcripts in a particular tissue"` or organ or tumor, or how tens of thousands of genes and proteins work together in `color{Violet}"interconnected networks"` to `color{Violet}"orchestrate the chemistry"` of life.























 
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