Announcements: lecture slides on Blackboard

Preliminary (pre-lecture) slides will have a “pre” suffix.

Updated (post-lecture) slides will have a “final” suffix.

When studying for exams, make sure you refer to

the finalized (“final”) slides.
 Inactive clicker licenses as of 10:00 AM 8/23/17

https://bbhelp.uark.edu/troubleshooting-your-clicker-registration/
 To use your clicker:

1. Push the “Channel” button.

2. Enter “06”.
3. Push the “Channel” button again.

Make sure you set your clicker to

Channel 06 at the beginning of each
lecture.

The Clicker Channel for our classroom (MAIN 201) is

Channel 06.
 Clickers vs ResponseWare/TurningPoint Mobile

TurningPoint Mobile (previously called ResponseWare) is an app

that allows you to use your smartphone, tablet, or laptop instead
of a clicker to respond to clicker polls during class.

While the app is free to download, you must have a valid Turning
Account subscription (previously known as a license) in order to
use TurningPoint Mobile.

PLEASE NOTE: TurningPoint Mobile requires an active WiFi

network to work. You may use TurningPoint Mobile if you
wish, but we cannot guarantee that WiFi will always be
working during our class periods.

https://bbhelp.uark.edu/responseware-for-students/
 Is your clicker working properly?

You should see a green light when

you enter your clicker channel (06).

This light should also flash green if

your response has been recorded
while polling is open.

For clicker troubleshooting: visit the table in front in front

of the Student Technology Center during the first two
weeks of classes, from 9 AM to 2 PM every weekday.
 Is your clicker working properly?

Response received: Response not received:

green light amber light
response shown (“1/A”) response not shown

Note: if you respond more than once to the same poll, your last
answer will be the only one recorded.
Genetics began with Mendel, his peas, and
his “particulate factors” of heredity

We are first going to consider

the molecular nature of genes,
then return to Mendel’s
abstract factors a bit later...
Genetics is the study of heredity and variation

Genes are the units of heredity

(Mendel’s “particulate factors”)

But what is a gene, actually?

 Genes are located on chromosomes

chromosome 1:
250,000,000 bp
2,600 genes

chromosome 22:
50,000,000 bp
500 genes

Human karyotype
Figure 1-2
 Genes are located on chromosomes

chromosome 1:
Average human gene distribution: 250,000,000 bp
1 gene / 100,000 bp 2,600 genes

Average size of a human gene:

~ 10,000 bp
chromosome 22:
This means that genes represent 50,000,000 bp
only 10% of your total DNA! 500 genes
 Genes are located on chromosomes

A chromosome is a single DNA molecule

which may contain many genes.
Genes are DNA sequences*

* some viruses have RNA genomes

 There are no physical boundaries between genes, but
genes have identifiable “parts”

promoter transcribed region terminator

regulatory elements (enhancers, silencers): regulate gene expression; often

outside of the gene itself
 Genes encode functional RNAs

promoter transcribed region terminator

RNA polymerase this DNA sequence is signal to stop

binding site; copied into RNA transcription
transcription starts here when the gene is expressed
Many (but not all!) genes encode mRNAs, which
are translated into protein

“Gene expression” is the

process by which a gene’s
genetic information (its
nucleotide sequence) is copied
into a functional RNA

The function of a gene and its

gene product(s) are determined
by its nucleotide sequence
How do genes (DNA sequences) influence
phenotypic traits (visible or detectable
characteristics)?
Gene products (RNAs and proteins) influence phenotypic
traits by regulating biochemical processes

An example:
Human lactase (LCT) gene

The LCT gene is expressed

(transcribed and translated)
in epithelial cells of the small
intestine.

The LCT protein is an enzyme

(lactase) that metabolizes
lactose.
Human lactase (LCT) gene

http://ghr.nlm.nih.gov/gene/LCT
Human lactase (LCT) gene: DNA sequence (49,336 nt)
 Human lactase (LCT) gene

examples: cystic fibrosis gene, lactase, hemoglobin?

(also talk about where these genes would be expressed).

http://ghr.nlm.nih.gov/gene/LCT
In most humans and other mammals, LCT is only expressed
during childhood

http://www.nature.com/news/archaeology-the-milk-revolution-1.13471
In a few regions of the world, mutations in the LCT gene have
produced a “lactase persistence” phenotype, allowing lactose
digestion to persist into adulthood.
 Every cell has a complete copy of the genome, but
different combinations of genes are “active” (expressed) in
different cells

Intestinal epithelial cells: red blood cells:

do express lactase do not express lactase
do not express hemoglobin do express hemoglobin
 Molecular nature of genes: summary

•Genes are nucleotide sequences that encode functional RNAs,

one type of which (mRNA) can be translated into protein

•Genes are carried on chromosomes

•Gene products (RNAs and proteins) influence phenotypic traits by

regulating biochemical processes

•The nucleotide sequence of genes determines their function

•All of your cells carry the same genes, but different combinations
of genes are expressed in different cells
 next time:

Genes vs Alleles