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Transcript
key words for genetics
One of the phenotypes you will learn about when 23andMe genotypes you is whether you can taste a bitter flavor in raw broccoli. Some
people’s tongue cells make a protein that can detect bitter flavors; others make one that can’t. Each of your cells contains a copy of your
genome, which is made up of a molecule called DNA. Your genome contains genes, which are blueprints that encode proteins like the
one made by your tongue cells. Different people can have different blueprints because of differences in their SNPs. There are two versions
of the SNP shown here, and each leads to a different version of the gene, which in turn encodes a different version of the protein. One
version of the protein can detect the bitter flavor of raw broccoli, while the other cannot.
phenotype: broccoli tastes bitter
genotype: C
#2) GENOTYPE
This word can be used in several ways. It can
refer to your DNA sequence at a particular
place, like the SNP shown here (either C or G).
It can refer to your personal collection of
genetic variants. As a verb, it refers to the
process of determining your sequence, as in
the introductory paragraph.
TONGUE CELLS
SIGNAL THE BRAIN
#3) CELL
Your body contains 50 trillion of these
microscopic living units. They are found
everywhere, from the surface of your tongue
to the inside of your bones. Cells perform
specific jobs in your body. The
way they perform their jobs affects your
phenotype.
#3) CELL
TONGUE
CLOSE-UP
#4) PROTEIN
G
A
A
G
C
A
G
G
A
C
C
A
G
G
A
A
G
A
G
A
G
A
G
A
A
G
G
A
A
G
G
A
A
C
G
A
C
C
A
C
C
C
A
A
T
C
C
T
T
G
G
G
G
A
A
G
G
G
G
A
A
A
A
A
A
A
A
A
G
T
T
T
G
T
C
G
T
C
A
T
T
C
A
C
T
C
C
C
C
C
A
C
C
C
A
A
A
A
C
C
C
A
C
C
C
G
C
C
C
G
A
C
C
C
G
G
A
C
C
C
G
A
C
C
C
G
A
C
C
C
G
A
phenotype: broccoli tastes ok
genotype: G
#1) PHENOTYPE
This word refers to the physical and
behavioral characteristics of an individual. In
most cases, both genes and environment
contribute to phenotype. An example of
a phenotypic trait is the ability to taste a
bitter flavor in raw broccoli, which can affect
whether you like it. (We’ll assume that if you
can taste the bitterness, you don't like raw
broccoli.)
#4) PROTEIN
Cells perform their jobs with molecular tools
called proteins. Some proteins are
used as the building blocks of hair. Others are
used to digest your food. In tongue cells, one
kind of protein detects bitter chemicals and
sends a signal to your
brain. The way a protein works—or
doesn’t—also affects your phenotype.
#5) GENOME
The genome is a master blueprint for making
all the different parts of you, and
a complete copy can be found in each of your
body’s cells. The genome contains about
20,000 individual blueprints for different
protein tools, plus a whole lot of other stuff
whose function is unknown.
G
G
G
G
G
G
G
G
G
G
G
#5) GENOME
G
A
A
G
C
A
G
G
A
C
C
A
G
G
A
A
G
A
G
A
G
A
G
A
A
G
G
A
A
G
G
A
A
C
G
A
C
C
A
C
C
C
A
A
T
C
C
T
T
G
G
G
G
A
A
G
G
G
G
A
A
A
A
A
A
A
A
A
G
T
T
T
G
T
C
G
T
C
A
T
T
C
A
C
T
C
C
C
C
C
A
C
C
C
A
A
A
A
C
C
C
A
C
C
C
G
C
C
C
G
A
C
C
C
G
G
A
C
C
C
G
A
C
C
C
G
A
C
C
C
G
A
G
G
G
G
G
G
G
G
G
G
G
#5) GENOME
#6) GENE
Each kind of protein tool has its own
blueprint, or gene, located in the cell's
nucleus. Genes can be turned on or off
in different cells at different times. The gene
for the protein that detects bitter
things is on in your tongue cells, but
off in your skin cells.
#8) DNA
A
G
G
C
A
C
C
ALA
A
PRO
C
T
G
A
G
C
#4) PROTEIN
G
A
G
A
C
C
A
G
C
ALA
C
#7) ENCODE
ALA
#9) SNP
LEU
#6) GENE
G
#7) ENCODE
We say that a gene encodes a protein,
because it contains specific information your
cells read in order to build that
protein. If your version of a gene is different
from a friend’s, it might encode a
different protein. All together, you have
about 20,000 genes, each encoding a
different protein.
PRO
A
#8) DNA
The information a gene uses to encode a
protein is stored in a molecule called DNA.
There are four “letters” in the DNA alphabet,
which make up three-letter “words.” Each
"word" encodes a single bit of a growing
protein chain. The full-length chain will
become a working protein. The bits making
up the protein affect how the protein does its
job.
#9) SNP
A SNP is a site in the genome where a single
DNA “letter” often differs from person to
person. Some (but not all) SNPs appear to be
associated with variation in different people’s
phenotypes. In this example, a SNP in the
gene encoding the protein that responds to
bitter flavors can have C or G
variants—leading to a big difference in
phenotype!
C
ALA
A
C
A
C
T
ALA
G
C
C
ALA
LEU
A
C
G
A
G