CHROMOSOME

VARIATION
WHAT YOU SHOULD BE ABLE TO DO:
Understand the differing mutations that change chromosome structure
Duplications, deletions, inversions, and translocations

Describe the importance of chromosome structure change evolutionarily

Describe how aneuploidy is a result of meiosis

Compare and contrast allopolyploid autopolyploid

CHROMOSOME
SHAPE VARIES
KARYOTYPE-THE NUMBER AND VISUAL
APPEARANCE OF THE CHROMOSOMES IN THE CELL
NUCLEI OF AN ORGANISM OR SPECIES
 KARYOTYPES HAVE BEEN VISUALIZED FOR
ROUGHLY 100 YEARS- USING MANY TECHNIQUES

G banding- Q banding- C banding- R banding-

A-T rich regions C-G rich regions Centromere histones C-G rich regions
ALTERATIONS TO KARYOTYPE ARE CLASSIFIED
INTO 3 SEPARATE GROUPS
Structural variants-Collective term for chromosome rearrangements and
copy-number variations.

Chromosome rearrangements-chromosome mutations that change the

structures of individual chromosomes.

The four basic types of rearrangements are duplications, deletions,

inversions, and translocations

Copy-number variation (CNV)- Difference among individual organisms

in the number of copies of any large DNA sequence (larger than 1000 bp).
Reverse duplication-Duplication of a chromosome
segment in which the sequence of the duplicated DUPLICATIONS
segment is inverted relative to the sequence of the
original segment.

Displaced duplication-Chromosome
rearrangement in which the duplicated segment is
some distance from the original segment, either on
the same chromosome or on a different one.

Tandem duplication-Chromosome rearrangement

in which a duplicated chromosome segment is
adjacent to the original segment.
Unequal crossing over-
Misalignment of the two
DNA molecules during
crossing over, resulting in
one DNA molecule with
an insertion and the other
with a deletion.
DUPLICATIO
NS IN
MEIOSIS
 DUPLICATIONS
CAN AFFECT
PHENOTYPE
 Bar mutation results from a small
duplication on the X chromosome

 Incompletely dominant, X-linked trait

 Heterozygous female flies have somewhat

smaller eyes

 Homozygous female and hemizygous male

flies, the number of facets is greatly
reduced

 Occasionally, a fly carries three copies of

the Bar duplication on its X chromosome;
in flies with this mutation, termed double
Bar, the number of facets is extremely
reduced
DUPLICATIONS ALSO CAN CREATE UNBALANCED
GENE DOSAGE
DUPLICATIONS ARE EXTREMELY IMPORTANT
EVOLUTIONARILY
Duplications create new genetic material that can be utilized in multiple functions

Genes are relatively complex structures, easier to modify rather than create De novo

Duplicated genes can be altered to do new functions – Neofunctionalization

Two copies of the same gene can “split up” the function to be more specialized (for example
being expressed in different tissues or at different times)- Sub-functionalization

One gene gets pseudogenized- one copy gets a mutation that makes it nonfunctional.
Evolutional will not act because the other copy is still functional. Therefore the deactivated
gene becomes “junk DNA”
DELETIONS- LOSS OF A CHROMOSOME
SEGMENT
EFFECTS OF DELETIONS
Pseudodominance- Expression of
a normally recessive allele owing
to a deletion on the homologous
chromosome.

Haploinsufficiency-Appearance
of a mutant phenotype in an The Notch phenotype is produced by a chromosome
deletion that includes the Notch gene.
individual cell or organism that is (Left) Normal wing venation. (Right) Wing venation
heterozygous for a normally produced by a Notch mutation.
recessive trait.
 Deletion of one copy of the Notch gene
haploinsufficient gene- Gene that
creates Notch phenotype
must be present in two copies for
normal function. If one copy of the
 If there are no Notch genes (i.e. both deleted)
gene is missing, a mutant
lethal during early development
phenotype is produced.
DELETIONS/DUPLICATIONS CAN CREATE A WIDE
VARIETY OF HUMAN PHENOTYPES
.

INVERSIONS
Chromosome inversion-
Rearrangement in which a segment
of a chromosome has been inverted
180 degrees.

Pericentric inversion-
Chromosome inversion that
includes the centromere in the
inverted region.

Paracentric inversion-
Chromosome inversion that does
not include the centromere in the
inverted region
Heterozygotes with
respect to inversions
the chromosomes
create an inversion
loop during
chromosome pairing
CROSSING OVER INSIDE AN
INVERSION CREATES NON-
VIABLE GAMETES
 Acentric chromatid-Chromatid that lacks a centromere;
produced when crossing over takes place within a
paracentric inversion. The acentric chromatid does not
attach to a spindle microtubule and does not segregate in
meiosis or mitosis; so it is usually lost after one or more
rounds of cell division.

 Dicentric chromatid-Chromatid that has two centromeres;

produced when crossing over takes place within a
paracentric inversion. The two centromeres of the dicentric
chromatid are frequently pulled toward opposite poles in
mitosis or meiosis, breaking the chromosome.

 Dicentric Bridge- Structure produced when the two

centromeres of a dicentric chromatid are pulled toward
opposite poles, stretching the dicentric chromosome across
the center of the nucleus. Eventually, the dicentric bridge
breaks as the two centromeres are pulled apart.
INVERSIONS ARE
IMPORTANT
EVOLUTIONARY
 It “locks” in allele combinations by causing
recombinant gametes to be inviable
 Translocation- Movement of a chromosome segment to a nonhomologous chromosome or to
a region within the same chromosome

 Reciprocal translocation-Reciprocal exchange

of segments between two nonhomologous
chromosomes.

 Nonreciprocal translocation- Movement of a

chromosome segment to a nonhomologous
chromosome or chromosomal region without any
(or with unequal) reciprocal exchange of
segments.
TRANSLOCATIONS CAN
CREATE INVIABLE
GAMETES AFTER MEIOSIS
 TWO NON-HOMOLOGOUS CHROMOSOMES HAVE THE FOLLOWING SEGMENTS, WHERE 
REPRESENTS THE CENTROMERE:
KLMNOPQR
STUVWXYZ

What type of chromosome mutation would

What type of chromosome mutation would
result in the following chromosomes?
result in the following chromosomes? KLMNOPQTUR
KLMNOPQR SVWXYZ
 
S T U V  W XYYX Z  
What type of chromosome mutation would What type of chromosome mutation would
result in the following chromosomes?
result in the following chromosomes?
KLMNOPQR
KLONMPQR STUVWXYZTU
STUVWXYZ
Aneuploidy- Change from the wild type in the number of individual
chromosomes; most often an increase or decrease of one or two
chromosomes.

 Monosomy- Absence of one of the chromosomes of a homologous pair.

 Nullisomy- Absence of both chromosomes of a homologous pair

 Trisomy- Presence of an extra copy of a chromosome

 Tetrasomy- Presence of two extra copies of a chromosome

GAMETES FORMED DEPENDS ON IF THE
NONDISJUNCTION HAPPENED IN MEIOSIS I OR
MEIOSIS II
 DOWN SYNDROME
• Trisomy 21, one of the most common causes of mental disabilities is due to an extra
chromosome 21.
• This results in a number of characteristic features, such as short stature, broad hands, stubby
fingers and toes, a wide rounded face, a large protruding tongue that makes speech difficult
and mental disabilities.

• Individuals with this syndrome have a high incidence of respiratory infections, heart defects
and leukemia.
• The average risk of having a child with trisomy 21 is 1/750 live births. Mothers in their
early twenties have a risk of 1/1,500 and women over 35 have a risk factor of 1/70, which
jumps to 1/25 for women 45 or older.

• **Karyotype: 47XX or 47XY with 3 of the chromosome #21

 EDWARDS SYNDROME
• This syndrome, trisomy 18 (an extra chromosome 18), produces severe mental
disabilities and a highly characteristic pattern of malformations such as elongated
skull, a very narrow pelvis, rocker bottom feet, malformed heart and a grasping of
the two central fingers by the thumb and little finger.

• In addition, the ears are often low set and the mouth and teeth are small. Nearly all
babies born with this condition die in early infancy. The frequency of this syndrome
is 1/5,000 live births

• **Karyotype: 47XX or 47XY with 3 of the chromosome #18

 PATAU SYNDROME
• This syndrome (trisomy 13 - extra chromosome 13) causes
severely abnormal cerebral functions and virtually leads to
death in early infancy.
• The baby has very pronounced clefts of the lip and palate,
broad nose, polydactyly (extra fingers and toes), small cranium
and nonfunctional eyes. Heart defects and severe mental
disabilities are also part of the clinical picture. The frequency is
1/15,000 live births.

• **Karyotype: 47XX or 47XY with 3 of the chromosome 13

 POLYPLOIDY- PRESENCE OF MORE THAN 2
SETS OF CHROMOSOMES
Allopolyploidy-Condition in which
the sets of chromosomes of a
polyploid individual are derived from
two or more species.

Autopolyploidy- Condition in which

all the sets of chromosomes of a
polyploid individual are derived from
a single species.
POLYPLOIDY IS VERY IMPORTANT IN
AGRICULTURE
SUMMARY

Duplications, deletions, inversion, and translocations change chromosome

structure
These rearrangements play important evolutionary roles
Aneuploidy is the increase ploidy of a subsection of chromosomes
Polyploidy is the increase of ploidy of all chromosomes
Polyploidy have two subgroups- autopolyploids and allopolyploids
 REMEMBER….

It will be a paper summary and review on a paper of your choice (with my approval) that will be related to the
exam

You will focus on the overall background of the paper, methods, results, and big conclusions with a focus on
how the paper contributed to the field

Each student can utilize this one time.

• Only if you have turned in all the homework (even Late)