Chromosomes

HISTORICAL BACKGROUND
• First described by WALTHER FLEMMING, EDUARD ADOLF STRASBURGER
AND EDOUARD VAN BENEDEN (1879-1892) as accurate counting of
chromosomes, first observed chromosomes in cell division
• The term was first used by WILHELM WALDEYER’S in 1888
• ETYMOLOGY: (Chroma= colour, Soma= body) due to their marked affinity for
basic dyes
• COMPOSED OF THIN CHROMATIN THREADS CALLED DNA.
• THESE FIBERS UNDERGO: COILING, SUPERCOILING AND FOLDING during
prophase so that the chromosomes become progressively thicker and smaller
• Therefore, chromosomes become readily observable under LIGHT MICROSCOPE.
• At the end of cell division, on the other hand, the fibers uncoil and extend as fine chromatin threads,
which are not visible at Light microscope
• WALTER SUTTON and THEODOR BOVERI discovered the chromosomal theory of inheritance
(1902). it is shown that chromosomes occur in pairs, one parent contributes each member of the pair, and
the pairs separate during meiosis.
• THOMAS HUNT MORGAN suggested that genes reside in chromosome as seen in drosophila.
• Fruit Flies Become Their Muse for Understanding Genes and Inheritance
PROKARYOTIC CHROMOSOMES
• the genomes of prokaryotes are contained in single chromosomes, which are usually circular DNA
MOLECULES.
• complexed with HISTONE-LIKE PROTEINS in a structure termed the NUCLEOSOMES.
• “naked” DNA
• ATTACHED TO PLASMA MEMBRANE PLASMIDS

PLASMIDS
• PROKARYOTES also frequently carry one or more smaller independent circular DNAs
• BACTERIAL cells may also contain plasmids that are autonomously self-replicating extrachromosomal
DNA that confer special characteristics to the cell in which it is present
• unlike the larger chromosomal DNA, plasmids typically are not essential for bacterial growth. instead,
they carry genes that confer desirable traits to the bacteria, such as MICROBIAL resistance.
• ALSO DISTINCT FROM CHROMOSOMAL DNA, plasmids can be present in many complete copies
per cell.
• ANTIBIOTIC RESISTANCE GENES; PLASMIDS INCLUDE THE Resistance A,
B, and C
THE BACTERIAL CHROMOSOME IS CONDENSED INTO CHROMOSOMAL DOMAIN
• The circular DNA is packaged into a region of the cell called the CHROMOSOME where it is organized
into 50 or so loops or domains that are bound to a central protein scaffold, attached to the cell membrane.
BACTERIAL CHROMOSOME
• SINGLE, CIRCULAR DNA MOLECULE LOCATED IN THE NUCLEOID REGION OF THE CELL
• DNA GYRASE (BACTERIAL TOPOISOMERASE II) is an enzyme necessary for the unwinding the
coils to the right. IN ORDER FOR DNA TO CONTROL THE SYNTHESIS OF PROTEINS, AND IN
ORDER FOR DNA TO REPRODUCE. THEY CUT THE DNA, AND AT THE END OF THE PROCESS
CONNECT IT AGAIN
EUKARYOTIC CHROMOSOME
• EUKARYOTES POSSESS MULTIPLE LARGE LINEAR CHROMOSOMES CONTAINED IN THE
CELL’S NUCLEUS.
• DNA IS ORGANIZED INTO CHROMATIN IN EUKARYOTES
• THE COMPLEXES BETWEEN EUKARYOTIC DNA AND PROTEINS (HISTONE AND NON-
HISTONE PROTEINS) ARE CALLED CHROMATIN, WHICH TYPICALLY CONTAINS ABOUT
TWICE AS MUCH PROTEIN AS DNA
• COMPLEX INTERACTIONS BETWEEN PROTEINS AND NUCLEIC ACIDS IN THE
CHROMOSOMES REGULATE GENE AND CHROMOSOMAL FUNCTION
• IN CONTRAST, ALL EUKARYOTIC CELLS HAVE MULTIPLE LINEAR CHROMOSOMES
• CIRCULAR DNA MOLECULES ALSO OCCUR IN _______________________, which are present in
almost all eukaryotic cells, and in chloroplasts, which are present in plants and some unicellular eukaryotes.
CHROMOSOME SIZE IN MITOSIS
• IN CONTRAST TO OTHER CELL ORGANELLES, THE SIZE OF CHROMOSOMES SHOWS A
REMARKABLE VARIATION DEPENDING UPONTHE STAGES OF CELL OF CELL DIVISION
•INTERPHASE: SISTER CHROMATIDS ARE REPLICATED, THINNEST
• PROPHASE: CONDENSATION; THERE IS A PROGRESSIVE DECREASE IN THEIR LENGTH
ACCOMPANIED WITH AN INCREASE IN THICKNESS
•METAPHASE: CHROMOSOMES ARE THE MOST EASILY OBSERVED AND STUDIED WHEN
THEY ARE VERY THICK, QUITE SHORT AND WELL SPREAD IN THE CELL
• ANAPHASE: CHROMOSOMES ARE THE SMALLEST
• THEREFORE, CHROMOSOMES MEASUREMENTS ARE GENERALLY TAKEN DURING
METAPHASE.
EUKARYOTIC CHROMOSOMES
• The major components of chromatin are DNA and HISTONE PROTEINS.
• Two types of chromatin can be distinguished:
1. EUCHROMATIN- which consists of DNA that is active, e.g., being expressed as protein
2. HETEROCHROMATIN- which consists of mostly inactive DNA
CHROMATIN
• The DNA of eukaryotic cell is tightly bound to small basic proteins (histones) that package the DNA in an
orderly way in the cell nucleus
- The total extended length of DNA in a Human Cell is nearly 2m, but this must fit into a nucleus
with a diameter of only 5 to 10 micrometer.
• The major proteins of chromatin are the histones- small proteins containing a high proportion of basic
amino acids ( and ) that facilitate binding negatively charged DNA molecule.
• 5 types of histones: H1, H2A, H2B, H3, and H4, which are very similar among different species of
eukaryotes
TELOMERE
 the two ends of a chromosome
 it required for the replication and stability of the chromosome
• They help to organize each of our 46 chromosomes in the nucleus
• They protect the ends of our chromosomes by forming a cap, much like the plastic tip on shoelaces. if the
telomeres were not there, our chromosomes may end up sticking to other chromosomes
• Every time a cell carries out DNA replication the chromosomes are shortened by about 25-200 bases (A,
C, G, T) per replication
• However, because the ends are protected by telomeres, the only part of the chromosome that is lost is the
telomere, and the DNA is left undamaged. Without telomeres, important dna would be lost every time a cell
divides.
• Telomeres are made of repetitive sequences of non-coding DNA that protect the chromosome from
damage
• Each time a cell divides, the telomeres become shorter. Eventually, the telomeres become so short that the
cell can no longer divide.
CENTROMERE
• the region where two sister chromatids of a chromatids of a chromosome appear to be joined or “held
together” during mitotic metaphase
• When chromosomes are stained they typically show a dark-stained region that is the centromere
• Also termed as primary constriction during mitosis, the centromere that is shared by the sister chromatids
must divide so that the chromatids can migrate to opposite poles of the cell
• Therefore, the centromere is an important component of chromosome structure and segregation
• The centromere divides the chromosome into two arms, so that, for example, an acrocentric
chromosome has one short (p) andone long arm (q)
• the p arm is named for petit meaning small; the q arm is named small letter q because it follows p in the
alphabet
• METACENTRIC CHROMOSOME has arms of equal length
• All house mouse chromosomes are acrocentric, while human chromosomes include both metacentric and
acrocentric, but no telocentric
CHROMOSOME TYPES: BASED ON CENTROMERE POSITION
1. METACENTRIC CHROMOSOME
- centromere is located exactly at the centre of chromosome, i.e. both arms are equal in size. such
chromosomes assume ‘V’ shape at anaphase
2. SUBMETACENTRIC CHROMOSOME
- the centromere is located on one side of centre point such that one arm is longer than the other
-these chromosomes become J OR L shaped at anaphase
3. ACROCENTRIC CHROMOSOME
- centromere is located close to one end of the chromosome and thus giving a very short arm and a very
long arm; acquire J shaped or rod shape during anaphase
4. TELOCENTRIC CHROMOSOME
- centromere is located at one end of the chromosome so that the chromosome has only one arm; i shaped
or rod shaped
KINETOCHORE
• within the centromere region, most species have several locations where spindle fibers attach, and these
sites consist of DNA as well as protein
• the actual location where the attachment occurs is called the kinetochore and is composed of both protein
and DNA
CHROMOSOME NUMBER
• HUMAN CELLS ARE: diploid
• AUTOSOME: 22 pairs
• SEX CHROMOSOME: 1 pair
ORGANISM & NO. OF CHROMOSOMES
Human - 46 Fruit Fly-8
Chimpanzee - 48 Mosquito-6
Dog- 78 Nematode-11(M), 12(F)
Horse-64 Horsetail-216
Chicken-78 Sequoia-22
Goldfish-94 Roundworm-2

• The size of the chromosomes in mitotic phase of animal and plants species generally varies between 0.5
micra and 32 micra in length, and between 0.2 micra and 3.0 micra in diameter
• The longest metaphase chromosomes found in trillium- 32 micra
• The giant chromosomes found in diptera and they may be as long as 300 micra and up to 10 micra in
diameter
KARYOTYPE TEST
• test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells.
• extra or missing chromosomes, or abnormal positions of chromosome pieces, can cause problems with a
person’s growth, development, and body functions.
• it is usually represented by a diagram called ideogram, where chromosomes of haploid set of an organism
are ordered in a series of decreasing size.
HUMAN CHROMOSOMES ARE DIVIDED INTO 7 GROUPS AND SEX CHROMOSOMES
• 1-3 LARGE METACENTRIC
• 4,5 LARGE SUBMETACENTRIC
• 6-12 MEDIUM-SIZED, METACENTRIC AND SUBMETACENTRIC
• 13-15 MEDIUM-SIZED ACROCENTRIC PLUS SATELLITES
• 16-18 SHORT METACENTRIC
• 19-20 SHORT METACENTRICS
• 21, 22 Y SHORT ACROCENTRICS WITH SATELLITES. Y NO SATELLITES
CHROMOSOME BANDING
• to see chromosomes by microscope, they are normally treated with chemical dyes, such as GIEMSA
• the chromosome will appear as a series of alternate dark and light bands.
• if giemsa is used, the dark band is called g-band or g- positive band, and the light band is named
g-negative band
• a technique for the identification of chromosomes and its structural abnormalities
PROTEIN BIOCHEMISTRY
KEY TERMS
•TRANSCRIPTION = the cellular process by which DNA is copied to RNA and occurs in the nucleus
•TRANSLATION = process by which RNA transcripts are turned into proteins and peptides and occurs in
the cell cytoplasm

01 INITIATION
• begins once the promoter gene sequence is detected by the transcription factors called __________
• __________ is a DNA sequence that indicates which specifies to other molecules where transcription
begins
• TATA box + transcription factors (RNA polymerase) = ____________________________

02 ELONGATION
• __________________________:
1. unwound DNA strand
2. add the complementary nucleotides to builds the mrna
molecule, using complementary base pairs

03 TERMINATION
• RNA polymerase crosses a stop (termination) sequence in the gene. the strand is called pre-MRNA strand
note!!! _____________ must be processed to a “________________”
WHY PROCESS FURTHER?

❖check for mistakes and errors

❖allows the MRNA molecule to be exported to the ribosomes

❖additional protection from photochemical mutations and gate pass (G CAP AND POLY-A TAIL)

❖removes introns (NON CODING REGIONS) through the use of __________________________

MESSENGER RNA TRANSCRIPT
• MRNA leaves the nucleus through its pores and goes to the ribosomes
TRANSLATION
1. decoding of MRNA
2. codons: instructions in MRNA in groups of 3 nucleotides
i) 61 different codons for amino acids
ii) AUG: start codon to begin translation
iii) stop codons: finished polypeptide
3. TRNA reads MRNA from 5’ to 3’ end
4. TRNA has an anti-codon that binds to matching MRNA through base pairing
5. TRNAs enter slots/sites in the ribosome and bind to codons
TRANSLATION SITES
1. A site (___________): accepts the incoming AMINOACYLATED TRNA aka landing site
2. P site (___________): holds the TRNA which is linked to the growing polypeptide chain
3. E site (___________): holds the TRNA before it leaves the ribosome
• erythromycin
• azithromycin
• chloramphenicol
• gentamicin