Wednesday, December 14, 2011

Chromosomes and Fertility

Polyploidy refers to a nucleus having three or more sets of a genome.

Humans have three genomes= mom's dad's and mitochondrial

Polyploids with even sets are fertile, and odd sets are infertile.

Endopolyploidy- only part of the organism is polyploid (ex. human liver)

Alloploid- contain genomes of closely related species

Autopolyploidy- increase int he number of chromosome sets in the same species

Aneuploidy- abnormal amounts of some chromosomes

Trisomy- an extra of one chromosome (usually a small one) often developmental problems

The SRY gene in males controls maleness. As long as you have an SRY gene, you are male. 

XY and XXY without SRY or with a defective SRY are female, and possibly infertile.

XX individuals with an SRY translocation=male and infertile

X linked traits=common. 
Sex limited genes-only in one phenotype


Polymerases

Transcriptional polymerases:

      Replicate non damaged DNA in S phase
              Alpha
              Delta
              Epsilon

      Replicates mitochondrial DNA
                Gamma

      Lesion tolerant
              N K L E

      General transcription factors
          TFIID---Binds to TATA box, calls TFIIB
          TFIIB---Binds TFIID and calls RNA Polymerase II
          TFIIF---Binds to RNA polymerase II and keeps everything bound
          TFIIE---forms open complex
          TFIIH---Helicases phosphorylates carboxyl terminal domain of RNA pol II

Bacterial DNA Polymerases:

     Repair Enzymes
          DNA Polymerase I---Replaces primers
          DNA Polymerase II---
     Replication-
           DNA polymerase III---each cell has two, they go each way in the bacterial genome.

DNA polymerase α includes an RNA polymerase subunit that serves as the primase.  This enzyme usually has no exonuclease activity.
DNA polymerase δ serves the primary chromosomal replicative enzyme.


Gene Expression

Negative regulatory system- A gene repressor binds to a silencer to prevent gene expression.

Positive regulatory system- A gene activator binds to an enhancer to encourage gene expression.

Silencers and enhancers are particular bits of code to which activators and repressors bind.

If expression increases- the gene is induced (positively or negatively)

If expression decreases- the gene is repressed (positively or negatively)

A gene contains:

       Shine dalgarno sequence
       Operon-silencer or enhancer
       promoter
       cistron-reading frame
      terminator (probably rho dependent)

Note: There is NO WAY to turn a gene off completely in bacteria

Lac Operon-

3 Genes

LacI (not in the lac operon!!! Contains lac repressor)

LacZ(Beta galactosidase)----changes lactose into allolactose---which binds to the repressor on lacI to induce the lac operon

LacY(lactose permease) Lets lactose into the cell

LacA(galactosidase transacetylase) Vestigial perhaps

When repressing a gene-this prevents the sigma factor from finding the promoter, and then the gene is not expressed.

DNA and RNA Structure and Function (Basics)

All cellular life is made of double stranded DNA.

In bacteria, the origin of replication is close to where the bacterial cell genome is anchored by the kinetichore to the cell wall.

Negatively supercoiled loop domains fit well inside a bacterial cell, and are easily transcribed. There is no scaffold in bacteria.


DNA is compacted into fibers using histones, or basic, positively charged proteins that attacks to DNA to bind it. One nucleosome is made up of two of each of the following four core histone proteins, H2A, H2B, H3, H4. H1 is not used in a histone octamer. The histone wraps DNA around itself. H1 is often seen between histone octamers.

DNA and RNA Structure (Basics)

DNA, as you learned from your general biology course, is governed by Chardiff's Rules. These rules are as follows:

Adenine (A)- a purine with a double ringed structure pairs with 
Thymine (T)- a pyrimidine with a single ring structure
(in RNA, Adenine pairs with Uracil)
Held together with two hydrogen bonds.


Guanine (G) - another purine, double ringed, pairs with
Cytosine (C) - a pyrimidine, single ringed
Held together with three hydrogen bonds

RNA, if long enough, will bind to itself. This forms a double stranded molecule with a stem loop, A helix, bulge loop, pseudo knot, three way branch point, or any other combination of crossed structure.

This occurs due to the water pushing base pairs together, as the backbone of DNA and RNA is hydrophilic, and the bases are hydrophobic, repelling water and pushing the base pairs against each other.


RNA has many tertiary functions.

It is important to note that function is not the same as a role. 
Function is a structure
Role is  structure AND its environment

Primary structure is ordering of the molecule.
Secondary structure is local regular folding of the molecule - eg. bulge loops, stem loops
Tertiary structure is a functional whole molecule, tRNA, mRNA, using the whole molecule
Quaternary structure involves the function of a molecule and its surroundings - e.g.. RNA and ribosomes

DNA does not have a 2 prime bond.

Vanderball's forces mean that the base pairs will be stabilized in stacks stepwise above each other.
DNA generally takes the secondary structure of a double right handed helix. 
It turns 365º per every ten base pairs. 

DNA has two grooves, the major groove and the minor groove. The major groove is the large gap in the backbone of DNA when you look at it. The minor groove is tucked between the backbone.


dna-b.gif
http://www.goldennumber.net/images/dna-b.gif

DNA and RNA can make an A helix together.

DNA forms a D helix with itself.

Z helix DNA, found only in high humidity and other unusual circumstances, is often thought to be silent. It is left handed, and has a backbones which zig zags.

RNA base pairing is sloppy. This results in many more mutations than DNA. It also has low stability and low fidelity.

DNA base pairing has high stringency, resulting in high stability and fidelity.

Phosphodiester bonds hold the backbone of DNA together. 


DNA and RNA supercoiling is a tertiary structure. 

DNA can be supercoiled negatively or positively. If negatively, it is turned in a left handed direction, whereas it is turned in a right handed direction if positively supercoiled.

Enzymes involved in this structure are known as topoisomerases.

Topo=topography
Isomer=same makeup, different arrangement

Type I Topoisomerase undoes supercoiling by breaking one strand and turning it. 
Type II Topoisomerase breaks both strands and passes them through each other, to create negative supercoils. It then ligates the strands (glues them back together).

The most common and important type II is Gyrase.

DNA breaks under positive supercoiling, and it will strains and break under heavy negative supercoiling as well.

However, it is mostly kept slightly negatively supercoiled.