The human genome contains 3.2 billion chemical nucleotide base pairs (A, C, T, and G).
·
The average gene consists of 3,000 base pairs, but sizes vary greatly, with the largest known human gene being
dystrophin at 2.4 million base pairs.
Functions are unknown for more than 50% of
discovered genes.
The human genome
sequence is almost exactly the same (99.9%) in all people.
· About 2% of the genome encodes instructions for
the synthesis of proteins.
· Repeat
sequences that do not code for proteins make up at least 50% of the human genome.
· Repeat 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, thereby creating
entirely new genes or modifying and reshuffling existing genes.
· The human genome has a much
greater portion (50%) of repeat sequences than the mustard
weed (11 %), the worm (7%), and the fly (3%).
· Over 40°/o of predicted human proteins share similarity
with fruit-fly or worm proteins.
· chromosome
1 (the largest human chromosome) has the most genes (3,168), and Y chromosome
has the fewest (344).
· Particular
gene sequences have been associated with numerous diseases and disorders, including breast
cancer, muscle disease, deafness, and blindness.