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Genetics Overview
Exploring Chromosome 3
 There is statistical evidence that there may be a gene that contributes to
the development of autism in a region of chromosome 3. Currently, there are two candidate genes in this
region — the GAT1 gene and the OXTR gene.
The GAT1 gene makes a protein that works with another
neurotransmitter called GABA. GABA is one of the
primary chemicals in the brain that conveys messages between brain cells. Scientists believe that
excessive or improperly functioning GABA may overstimulate the brain, resulting in autistic behaviors.
The OXTR is a gene that makes the oxytocin receptor protein. In studies of animals, the OXTR
gene seems to function in the brain during early development and probably helps the brain develop.
In humans, the oxytocin receptor is found in the brain as well as in the uterus and mammary glands.
Interestingly, studies of animals have also shown that mice that have too much oxytocin develop
repetitive behaviors, such as repetitive grooming and stretching. However, oxytocin may act
differently in humans than mice.
[back to main Genetics Overview page]
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WHAT IS A GENE?
Genes are very small structures inside almost every cell of
the body. They are the instructions, or blueprints, that tell
our body how to grow and develop, build necessary proteins,
and thus determine an individual's characteristics, such as
eye color and blood type. More ...
HOW GENES ARE NAMED
You may wonder how genes are named. As you may have guessed,
some names are abbreviations for the full gene names. Other
genes are named after similar genes in other organisms. More ...
WHAT IS A CHROMOSOME?
Chromosomes are structures that contain genes. Chromosomes are
visible with a microscope and are located in the nucleus of a
cell. Almost every human chromosome contains thousands of individuals
genes. More ...
HOW CHROMOSOME ABNORMALITIES HELP US FIND GENES
Genetic researchers use many different tools and strategies to
look at the genetic material (DNA) inside our cells to find the
exact gene(s) that cause a genetic disorder such as autism. More ...
HOW GENOME SCREENS HELP US FIND GENES
In order to determine the genes that may be involved, scientists
also perform what are referred to as "genome screens." To do this
they use maps of the chromosomes in order to look for genes. More ...
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