Anatomy of a chromosome

• During cell division, each human

chromosome has 2 arms called chromatids
(During G1 phase, there is only 1 arm;
becomes 2 during S phase because of DNA
replication)
• Portion of the chromosome that is always
condensed is called heterochromatin.
• Heterochromatin is transcriptionally inactive
 Anatomy of a chromosome
• Portion of the chromosome that is dispersed
and elongated during interphase, but
condenses only during cell division, is called
euchromatin
• Euchromatin is transcriptionally active
• Sister chromatids are attached to a
heterochromatin region called centromere
 Anatomy of a chromosome
• Centromeres may be located at the centre
(metacentric), away from centre (submetacentric)
or towards the end (telocentric)
• Acrocentric chromosomes appear V shaped in
microscope, metacentric and submetacentrics
appear X shaped
• The short arm of the chromosome is called p arm
and long arm is called q arm
• Chromosomes are classified according to their
centromeric index (ratio of short arm length to
total chromosome length)
 Anatomy of a chromosome
• Centromere is a AT rich region of around 130 base
pairs
• Centromere binds to several proteins with high
affinity (Eg.Cohesin)
• The complex of centromere with proteins is called
kinetochore; this provides the anchor for mitotic
spindle
• Ends of each chromatid contains structures called
telomeres.
• Telomere has repeats of the sequence 5’TTAGGG3’
 Anatomy of a chromosome
• Telomeres protect the ends of chromosomes from
degradation and loss of DNA sequence
• Excessive shortening of telomeres may involve
genes and disrupt the coding regions, resulting in
aging and cell death (somatic cells: e.g. skin
cells,fibroblasts, etc)
• Telomerase is the enzyme responsible for telomere
synthesis
• In germ cells, telomerase is expressed to maintain
the length of telomere.
• Abnormal expression of telomerase results in
cancer
 Chromosome banding
• To visualise chromosomes under microscope,
they are treated with dyes
• Giemsa is the commonly used dye
• In Giemsa staining, a chromosome appears
as alternate light and dark bands
• Dark bands are called G-positive or positive
or G bands
• Light bands are called G-negative or negative
or R bands
(Alkali treated chromosomes give reverse
pattern with Giemsa, hence G-negative band
is called R-band)
• Some regions of the chromosome stain dark
in some individuals but light in some other
individuals. These are celled variable bands
 Karyotype and karyotyping
• Karyotype is an organized profile of a
person’s chromosome
• Chromosomes are arranged and numbered
by size from largest to smallest
• Classification of chromosomes based on size,
centromeric index and banding, determines
the karyotype profile
• Construction of a person’s karyotype is called
karyotyping
 Karyotyping
• Enlarged photo of a dividing cell of an individual
is taken
• Individual chromosomes are cut out
• Each chromosome is matched with the other
member of its pair
• Paired chromosome cut outs are fixed onto its
proper position on a standard karyotype form.
• The karyotype form organizes the chromosomes
into 7 groups (A through G) based on size,
shape, centromeric index, and banding pattern
if available
 Uses of karyotyping
• Numerical/structural abnormalities of
chromosomes are easily detected on a
karyotype
• Helps in clinical diagnosis of certain diseases
• Helps in prenatal diagnosis of genetic
diseases (by using amniotic cells obtained
through amniocentesis)