M W F; 10:10 - 11:00 pm

 Molecular Biology

 Douglas W. Smith

York 2722

 BIMM 100

 5254 Muir Biology Building

Fall, 2000  

 x42620; dsmith@ucsd.edu

 

 

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13. Genome Replication:

Termination and Telomeres

 

Readings: Brown, 12: 319-327

Outline:

 
A. Termination of Rounds of DNA replication in E. coli
B. Telomeres
1. Telomerase, a Ribonucleoprotein Enzyme
2. Possible Roles of Telomerase in Aging and Cancer
 

 

 

A. Termination of Rounds of DNA Replication in E. coli

Definition: Termination includes all events associated with completion of rounds of DNA replication after all DNA synthesis is completed. These events include Decatenation and Separation of Daughter Chromosomes and Segregation of Daughter Chromosomes into cell regions destined to become parts of the Daughter Cells upon Cell Division.

Basic mechanism: replication forks from bidirectional replication "run into each other" in the E. coli terminus region.

When replication forks begin to approach each other, the excess of supercoils present in the DNA ahead of the forks (due to helicase unwinding of parental DNA strands at the forks) ... will slow down the forks.
The forks are thus thought to "run into each other" in rather "gentle" fashion ...


1. Ter sites in Terminus Region:
... [Brown, Fig 12.22]
Six specific sites exist in the Terminus Region that dramatically slow down fork movement.
These are "directionally specific": three slow down one fork, three slow down the other fork.

Positions of the Ter sites are such that the replication forks would normally cross each other to reach the requisite Ter sites

Function of the Ter Sites: thought to be a "backup mechanism":
If one replication fork were to arrive in the Terminus region "ahead of schedule" and ahead of the other replication fork, it would be slowed down by the Ter Sites, permitting the other replication fork to "catch up", resulting in normal Termination in the Terminus Region.

Tus Protein - Ter Utilization Substance - protein that mediates the slowing down of Replication Forks at the Ter Sites.


2. Decatenation of Daughter Chromosomes
:
Daughter chromosomes may be "interlocked". If so, DNA gyrase could catalyze "decatenation" of the interlocked daughter chromosomes ... however, bacteria have evolved a separate 'resolvase' or site-specific 'recombinase' system to do this:

XerCD proteins: these proteins are site-specific endonucleases that act as 'recombinases' to function in the stable maintenance of E. coli chromosomes.

They recognize a specific site in the terminus region called dif and catalyze cleavage of a specific pair of DNA strands, exchange of the strands, and rejoining of the cleaved strands to the parental molecule.

Both XerC and XerD are required for the recombination reaction, but each protein can execute the rejoining reaction, possibly each on its own daughter chromosome.


3. Segregation of Daughter Chromosomes

Daughter chromosomes move toward the poles of the growing bacterial cell.
The mechanism for this is not clear but probably involves the bacterial cell surface and the protein MukB may serve as a "motor force" protein.

Daughter bacterial cells are then produced by asexual fission of the growing parental bacterial cell in a plane at the center of the cell, with each daughter cell receiving one daughter chromosome.

 

 

B. Telomeres:... [Brown, Section 12.3.4]

1. Definition:
A Telomere is a DNA sequence forming the ends of eukaryotic chromosomes that:

1. confers stability to the chromosome
(without the Telomeric sequence, a chromosome has "sticky ends" that promote recombination with other chromosomes)

2. provides a mechanism for DNA replication of the ends without loss of genetic information ... [Brown, Fig 12.23]

This Telomeric sequence is a series of many Direct Repeats of a simple sequence of the general form:
C
n(A/T)m, where n > 1 and m is 1 to 4

Examples: ... [Brown, Table 12.3]
Tetrahymena: CCCCAA (the most extensively studied and used)
(or: TTGGGG)
Oxytricha CCCCAAAA Trypanosome: CCCTA; Human: CCCTAA


2. Isolation of Telomeres:
A YAC with an ARS origin and CEN centromere sequence is unstable in Yeast: it is degraded.

The provides a system for isolation of Telomeres:
clone fragments onto the ends of the YAC, select those that are stabilized.

Fragments that work in this assay come from the ends of natural chromosomes.


3. Telomere length:
Further, fragments from other eukaryotes work in yeast:
yeast Telomeres are ADDED ONTO the ends of the cloned fragments

Thus: Telomeres can be "repaired": Telomeres that are too short are extended...[YACs: J. Art. 1]

This solves the problem of DNA replication ... the ends do not need to be completely replicated !! The specific Telomeric "repair" process will complete the job ...


Why then are Telomeres not extended to very long lengths ??
Another enzyme system, Telomerase Binding Proteins (TBPs), as yet not well characterized, "shortens" Telomeres that are too long ... this process is Essential to the cell; mutants are lethal ... [Brown, Page 323]

Thus: enzyme systems exist in Yeast which maintain Telomere length within well defined bounds ...

 


1. Telomerase:

Telomere synthesis: Telomerase
... [Brown, Fig 12.24]
A Tetrahymena enzyme termed Telomerase has been isolated which:
adds TTGGGG repeats to the 3'-OH end of the G,T strand of Tetrahymena telomeres


Telomerase is a Ribonucleoprotein:
it contains an RNA component, 159 bases long in Tetrahymena.
This RNA has two repeats of the CCCCAA sequence which serve as a Template for
synthesis of new TTGGGG repeats.

This is DNA synthesis from an RNA template: Reverse Transcription

How the other strand is synthesized is not yet known definitively, but probably the end of the TTGGGG strand transiently loops back, and the 3'-OH of the terminal G serves as a Primer Terminus for synthesis of the second strand.


Stability of the Telomere end:
NMR and X-ray diffraction studies of d(GGGGTTTTGGGG) - Oxytrichia indicate a G-Quartet structure. ... [Voet-Voet, Fig 31-35]
although alternative structures have also been proposed ... [Brown, Fig 12.25]

Telomere-binding proteins promote formation of this structure (Chaperonins) and may themselves contribute to Telomere stability; these structures inhibit Telomerase extention of the Telomere.

 

 

2. Possible Roles of Telomerase in Aging and in Cancer:

a. Aging:
In higher eukaryotes, Telomerase activity is present in embryonic cells
BUT is absent in cells from adult tissue!
It is specifically the Telomerase protein, not the RNA component that is absent ...
the RNA component remains abundant in adult tissue ...

Thus: during replication of proliferating cells in adult tissue, Telomeres are progressively shortened, due to the problem with replication of the Lagging Strand all the way to its end.
Eventually the Telomere is shortened to the point that it is removed completely!
And during subsequent replication and cell proliferation, DNA encoding genes at the ends of chromosomes is lost.

This loss has been implicated in the Aging Process!
However much remains to be done to clarify this ...

 

b. Cancer:
1) Immortalization of Human Cells cultured in vitro:

When one attempts to establish a new cell line in vitro, one usually finds that the cells "age" and die after some 30-50 generations ... and Telomerase activity is absent in these cells
This "death" is NOT present in cell lines that are "immortal", for example, in the tumor cell line called HeLa cells established from cells from a tumor from Helen Lamar ...
AND Telomerase activity is present in these cells!

Conversely, when immortalized, tumorogenic cell lines are induced to differentiate, they lose their immortalization ... and lose their Telomerase activity!

Most importantly: the hTERT gene encoding the human Telomerase protein has been cloned ... and when inserted into normal cell lines, the cell lines become 'immortalized' ... This directly shows that Telomerase alone leads to immortalization

2) Tumorogenesis:
Finally
insertion of the hTERT gene, together with a few oncogenes, into human fibroblasts or kidney cells converts them into tumorogenic cells.
Overall, about 90% of tumor types reactivate Telomerase (but 10% don't ...)
Thus: the Telomerase protein appears to be a key protein in both cell 'immortalization' and in tumorogenesis ...





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