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Giesma Stain: specific for the phosphate groups of DNA and attaches itself to regions
of DNA where there are high amounts of adenine-thymine bonding.
The human chromosome complement at
metaphase of mitosis
.
Centromeres
1. Centromeres: constricted
region of the chromosome
where two identical sister
chromatids are most closely
in contact
2. Sister chromatids are linked
all along their length by
cohesion
3. Cohesion is released from
chromosome arms during
prophase
4. Last place where they are
Chromosomal components:(1) Chromatid (2)
linked with one another is in Centromere (3) short arm (4) Long arm
the chromatin in and around http://en.wikipedia.org/wiki/Centromere
the centromere
Centromeres
• Chromosomes are classified
according to the relative
position of their centromeres
• In metacentric it is located in
middle of chromosome
• In submetacentric — closer to
one end of chromosome
• In acrocentric — near one end
of chromosome
• Telocentric if joined at end of
chromosome, acentric (no
centromere) or dicentric (two
centromeres) chromosomes,
are genetically unstable.
Exception: if 2 centromeres are
very close together
Human ancestors had 24 pairs of chromosomes. Two acrocentric
chromosomes fused, creating human chromosome 2.
http://www.bozemanscience.com/x-inactivation
Barr Bodies
• The inactive X is highly condensed, can be observed in
stained interphase cells, and is referred to as Barr bodies
• Random inactivation of either the maternal or paternal
chromosome
• Occurs early in embryonic development, and all cellular
descendants have the same inactivated chromosome
Inactivation of X
chromosome is
random
Occurs in somatic cells
at an early stage of
embryonic development
and is then passed on to
progeny cells by mitosis
The mechanism of inactivation
http://genes.atspace.org/
Y chromosome determines genetic
maleness in humans
The Y chromosome determines maleness in humans
The human karyotype revealed that one pair of
chromosomes differs in males and females:
• Typical females have two X chromosomes
• Typical males have one X and one Y chromosome
Y chromosome has at least 75 genes
• The pseudoautosomal regions (PARs) present on both ends of
the Y chromosome that share homology with regions on the X
chromosome and synapse and recombine with it during meiosis
• The presence of such a pairing region is critical to segregation of
the X and Y chromosomes during male gametogenesis
The non-recombining region of Y chromosome is
called the male specific region of the Y
• It has euchromatic and heterochromatic regions
• The SRY (sex determining region) is located adjacent to PAR of
the short arm of the Y chromosome
The Y chromosome and male development
• At 6-8 weeks of development, the SRY genes become active in
XY embryos
• The testis-determining factor (TDF) is a protein encoded by a
gene in the SRY that triggers testes formation
The pseudoautosomal region of the X and Y chromosomes
has gotten progressively shorter in evolutionary time
http://news.discovery.com/human/videos/are-men-going-
extinct-video.htm
Human Y Chromosome
Y chromosome does not undergo recombination along most of its
length
• Genetic markers in the Y are completely linked
• Y genes degenerate over time as in the absence of
recombination, mutations accumulate
• The set of alleles at two or more loci present in a particular
chromosome is called a haplotype
• The history of human populations can be traced through studies
of the Y chromosome
http://www.radiolab.org/story/91519-
genghis-khan/
Abnormal Chromosome Number
Euploid = balanced
chromosome abnormality
(example: tetraploids have 4 of
each chromosome)
• Down Syndrome is a
genetic disorder due to
trisomy 21, the most
common autosomal
aneuploidy in humans
• Frequency of Down
Syndrome increases with
mother’s age
• CNV’s increase with paternal
age
Monosomy
The loss of one chromosome to produce
a 2n – 1 complement is called
monosomy
• The loss of a single chromosome may
have severe phenotypic effects
• Monosomy for the X chromosome
occurs in humans geneticdisordersp7.wikispaces.com
Reciprocal Translocations:
https://www.youtube.com/w
atch?v=MLDCJ2gUC84
Robertsonian Translocation
• A special case of nonreciprocal translocation is a
Robertsonian translocation – fusion of two
acrocentric chromosomes in the centromere
region
• Translocation results in apparent loss of one
chromosome in karyotype analysis
• Genetic information is lost in
the tips of the translocated
acrocentric chromosomes
Robertsonian Translocation:
https://www.youtube.com/watch?v=vbGw4VanNjk
Robertsonian Translocation
• When chromosome 21 is one of the acrocentrics
in a Robertsonian translocation, the
rearrangement leads to a familial type of Down
syndrome
• The heterozygous carrier is phenotypically
normal, but a high risk of Down syndrome results
from aberrant segregation in meiosis
Endoreduplication:
Production of a diploid from a
monoploid by treatment with
colchicine, which disrupts
spindle and prevents
separation of chromatids
Polyploidy
• The grass family illustrates the importance of
polyploidy and chromosome rearrangements in
genome evolution
• The cereal grasses (rice, wheat, maize, millet,
sugar cane, sorghum, and other cereals) are our
most important crop plants
• Their genomes vary enormously in size: from 400
Mb found in rice to 16,000 Mb found in wheat
Polyploidy
• In spite of the large variation in chromosome
number and genome size, there are a number of
genetic and physical linkages between single-
copy genes that are remarkably conserved in all
grasses amid a background of rapidly evolving
repetitive DNA
• Each of the conserved regions (synteny groups)
can be identified in all the grasses and referred to
a similar region in the rice genome.
Conserved linkages (synteny groups) between rice genome and other
grass species.