Chromosome

Structure
Definition
A chromosome is an organized
structure of DNA and protein
Historical
Background
Walter Flemming (1882)
Theodor Boveri (1902)
Walter Stanborough Sutton (1903)
Edmund Beecher Wilson (1905)
Theophilus Shickel Painter (1923)
Joe Hin Tjio and Albert Levan (1956)
DNA Packaging
DNA Organization
Chromatin
Chromatin is the combination of DNA
and proteins that make up the contents
of the nucleus of a cell.
Chromatin Function
to package DNA into a smaller volume
to fit in the cell (1.2 10
10
miles of DNA unwound)
to strengthen the DNA to allow mitosis
to prevent DNA damage
to control gene expression and DNA
replication
Chromatin
organization
Chromatin Organization
DNA wraps around histone proteins
forming nucleosomes; the "beads on a
string" structure (euchromatin).
Multiple histones wrap into a 30 nm fibre
consisting of nucleosome arrays in their
most compact form (heterochromatin).
Higher-level DNA packaging of the
30 nm fibre into the metaphase
chromosome (during mitosis and
meiosis).
Beads on a string
Histone Modification:

Methylation- increases packing
Phosphorylation decreases packing
Acetylation decreases packing

Chromosome Arms
The Long and Short of it
all
The position is on the chromosome's short
arm (p for petit in French); q indicates the
long arm (chosen as next letter in alphabet
after p).
The bands are visible under a
microscope when the chromosome is
suitably stained. Each of the bands is
numbered, beginning with 1 for the band
nearest the centromere. Sub-bands and
sub-sub-bands are visible at higher
resolution.
Centromere

Described by Flemming (1880s) as a primary
constriction of the chromosome
The centromere is the part of a chromosome that
links sister chromatids. During mitosis, spindle fibers
attach to the centromere via the kinetochore.

The complexity
of the
centromere
Cohesin
Protein complex
SCC1 (3p26.1)
SCC3 (3q22.3)
SMC1 (Xp11.22)
SMC3 (10q25.2)
Regulates separation of sister
chromatids
NOR

Region around which the nucleolus forms right after
cell division
Contained within the satellites on acrocentric
chromosomes
Identified using a silver stain technique- stains
satellites dark blue

Telomere - TTAGGG
A telomere is a region of repetitive nucleotide sequences at each end of a chromatid, which
protects the end of the chromosome from deterioration or from fusion with neighboring
chromosomes
Hermann Muller (1930) X-ray experiments to break and fuse chromosomes together;
telomeres were resistant to breakage.
15,000 base pairs
Prevent chromosomes from fusing with each other
Prevent chromosomes from loosing sequences at the ends
Usually lose 25-200 base pairs each division
Cell senescence as soon as telomere reaches a critical length.

X- inactivation

X contains over a 1000 genes whereas
Y is gene poor
Dosage effect/ dosage compensation
One chromosome randomly inactivates
and produces a dark staining
B_ _ _ B_ _ _
(Mary Lyon, 1961)
* random X-inactivation occurs at 6.5
days of embryogenesis- V. najfeld


References

Lyon MF (1961) Gene action in the X-chromosome of the mouse (MusmusculusL). Nature 190: 372373.
Diaz-Martinez, Laura Angelica; and Yu, Hongtao (December 2010) Chromosome Condensation and Cohesion.
In : encyclopedia of Life Sciences (ELS). John Wiley & Sons, Ltd: Chichester.
DOI:10.1002/9780470015902.A0022534
Cheeseman, I. M., & Desai, A. Molecular architecture of the kinetochore-microtubule interface. Nature Reviews
Molecular Cell Biology 9, 3346 (2008) doi:10.1038/nrm2310
Bednar, J., et al. Nucleosomes, linker DNA, and linker histones form a unique structural motif that directs the
higher-order folding and compaction of chromatin. Proceedings of the National Academy of Sciences 95,
1417314178 (1998)
Fischle, W., et al. Histone and chromatin cross-talk. Current Opinion in Cellular Biology 15, 172183 (2003)
Ford, C. E., & Hamerton, J. L. The chromosomes of man. Nature 178, 10201023 (1956)
doi:10.1038/1781020a0