Virginia Martinez

Choose a Chromosome - Human Chromosome Discovery

Choose a human chromosome to research. Humans have 22 pairs of chromosomes and one pair of sex
chromosomes. (23 pairs in total) You can browse the various chromosomes at the Genetics Home
Reference page.
Answer the following questions related to the chromosome of your choice:
How many base pairs is this chromosome? How does this compare to the size of other
chromosomes?
Chromosome 9 is made up of 141 million base pairs, in comparison to other chromosomes such as 19
which has 59 million base pairs or chromosome 4 which has 191 million base pairs.
What is a gene?
A gene is a shorter piece of DNA, or a short sequence of nucleotides that code for a protein.
How many known genes are on this chromosome?
Chromosome 9 has about 800 to 900 genes that provide information to create proteins.

Choose 2 genes found on your chromosome (answer the questions below for each gene):
Gene: ABCA1
What does this gene do?
This gene gives instruction to make proteins that transport molecules across a cell membrane.
Why is this function important?
This function is important since the protein made moves cholesterol and other phospholipids across the
cell membrane to the outside of the cell, where it is then picked up by another protein and is combined
with the other protein to create HDL, or high-density lipoprotein. HDL is important since it decreases the
chance of developing heart and vessel disease.
What is the result if this gene does not function properly?
A condition that may result is called familial HDL deficiency where those with this condition can
experience early onset cardiovascular disease often before the age of 50. One copy of this disease will result
in familial HDL deficiency, but two copies will result in a more severe disease, Tangier. Tangier prevents
the release of cholesterol and phospholipids from cells, which leads to build up in cells, causing certain
body tissues to build up. When cholesterol builds up it is toxic for cells, so cells have impaired function or
will die.
Gene: TOR1A
What does this gene do?
This gene provides instruction to make a gene called torsinA.
Why is this function important?
Little is known about this protein, but evidence suggests it assists in transporting and processing proteins.
The importance of this protein is in the function of nerve cells in the brain.
What is the result if this gene does not function properly?
Early-onset primary dystonia is a special mutation in the TOR1A gene, and will delete three base pairs
from the TOR1A gene. The resulting torsinA protein is missing a crucial building block, or amino acid,
but the impact on the brain cells from this is unclear. The altered protein may have effects on the nerve
cells and disrupts chemical movement between nerve cells that control movement.