CHROMOSOMES

REVIEW

Genetic information is found on our chromosomes

2007 Paul Billiet ODWS

DEFINITION OF CHROMOSOME
It is a combination of two words, i.e., Chroma-means colour and Somes-means body.
So the coloured thread like bodies present in the nucleoplasm of the living cells, which helps in the inheritance (transmission) of characters in form of Genes from generation to generation are known as CHROMOSOMES.

Naming of parts
p arm

telomere

centromere heterochromatin

q arm

9q34.1 telomere

PHYSICAL STRUCTURE
Size varies from 1 to 30 micron in length and diameter from 0.2 to 2 micron.

CENTROMERE:The non-stainable part chromosome making a primary constriction.

of

the

CHROMATIDS:- Two chromatids join at the centromere to form a chromosome. CHROMONEMA:- In each chromatid, there longitudinal chromonemata coiled with each other. are two

CHROMOMERES:- In each chromonemata, there are bead like chromomeres present through out the coil. GENES:- Each chromomeres contains genes, the unit of inheritance of character.

SURFACE VIEW

TYPES OF CHROMOSOMES
1. TELOCENTRIC:- The centromere is
present at the chromosomes.
SHORT ARM CENTROMERE CENTROMERE

end

of

the
LONG ARM

LONG ARM

2.ACROCENTRIC:-The centromere is almost terminal. It has one large and another very small arm.

TYPES OF CHROMOSOMES
(CONTINUED)
SHORT ARM

CENTROMERE

3. SUB-METACENTRIC:Here the centromere is not at the middle position of the chromosomes. So the arms are unequal and it is L-Shaped in appearance.
TWO EQUAL ARMS

LONG ARM

4. METECENTRIC:The centromere is at the middle position. So the arms are equal and it is V-Shaped in appearance.

CENTROMERE

CHEMICAL STRUCTURE
Chemically the chromosomes are made of proteins and nucleic acids.
PROTEINS It is mainly Histones and smaller amount of acidic proteins. NUCLEIC ACIDS It is de-oxy ribose Nucleic Acids (DNA). Genes are nothing but the segments of DNA.

Chromosomes and cell division

Multicellular organisms copy their chromosomes before cell division. Interphase They must grow to a mature size. The nucleus divides, distributing the chromosomes into two equal groups (mitosis). The cytoplasm then divides (cytokinesis) each part taking a nucleus.
Image believed to be in the Public Domain

2007 Paul Billiet ODWS

The cell cycle

Cytokinesis Division of the cytoplasm M G0 Some cells may stay in this stage for over a year

G2 Second growth phase S

G1 First growth phase. Varies in length

Copying of chromosomes

G1 + S + G2 = INTERPHASE
2007 Paul Billiet ODWS

Chromosomes and reproduction

Chromosomes come in pairs One of the pair is maternal the other is paternal When parents make sex cells the number of chromosomes must be halved (haploid cells)

One of each type of chromosome is taken

2007 Paul Billiet ODWS

Meiosis and fertilisation

Mother
23 pairs of chromosomes

Father
23 pairs of chromosomes

Meiosis Sex cells 23 unpaired chromosomes 23 unpaired chromosomes 23 unpaired chromosomes Fertilisation 23 pairs of chromosomes 23 unpaired chromosomes

Child

2007 Paul Billiet ODWS

Images believed to be in the Public Domain

Meiosis

A special type of cell division Used to make sex cells Meiosis halves the numbers of chromosomes Meiosis picks one chromosome from each pair at random and places them in a sex cell. This results in enormous variation amongst the sex cells.

2007 Paul Billiet ODWS

The inheritance of gender

Is it going to be a boy or a girl?

University of New Mexico

The inheritance of gender

Mother XX
Meiosis Sex cells

Father XY

X
Fertilisation

Y XY XY
Possible children

X X

XX XX

Chance of a girl 50% Chance of a boy 50%

2007 Paul Billiet ODWS

Sex chromosomes

The sex of many animals is determined by genes but on chromosomes called sex chromosomes The other chromosomes are called autosomes One sex is homogametic The other sex is heterogametic

2007 Paul Billiet ODWS

Chromosomes in eukaryotes and prokaryotes are different

PROKARYOTES single chromosome plus plasmids EUKARYOTES many chromosomes

circular chromosome
made only of DNA

linear chromosomes
made of chromatin, a nucleoprotein (DNA coiled around histone proteins) found in a nucleus

found in cytoplasm

copies its chromosome and divides copies chromosomes, then the immediately afterwards cell grows, then goes through mitosis to organise chromosomes in two equal groups
2007 Paul Billiet ODWS

Chromosomes in eukaryotes

Found in the nucleus Condensed and visible during cell division At the beginning of mitosis they can be seen to consist of two threads (sister chromatids) joined by a centromere The sister chromatids are identical copies During mitosis the sister chromatids separate and are placed into two nuclei

2007 Paul Billiet ODWS

Image believed to be in the Public Domain

Numbers of chromosomes

Constant for each cell in the body (except sex cells which only have half sets). Constant throughout the life of an individual (you dont lose or gain chromosomes) Constant for all members of a species

2007 Paul Billiet ODWS

Organism Human Chimpanzee House Mouse

Chromosome numbers 46 48 40

Maize
2007 Paul Billiet ODWS

20

The chromosomes of a human female

2007 Paul Billiet ODWS

Image believed to be in the Public Domain

Identifying chromosomes
Chromosomes can be identified by: Their size Their shape (the position of the centromere) Banding patterns produced by specific stains (Giemsa) Chromosomes are analysed by organising them into a KARYOTYPE

2007 Paul Billiet ODWS

Female

Male
Images believed to be in the Public Domain

Downs syndrome

Image believed to be in the Public Domain

Development and chromosomes

Differences in chromosomes are associated with difference in the way we grow. The karyotypes of males and females are not the same

Females have two large X chromosomes

Males have a large X and a small Y chromosome

The X and the Y chromosomes are called sex chromosomes

The sex chromosomes are placed at the end of the karyotype

Unusual growth can be associated with chromosome abnormalities

e.g. People who develop Downs syndrome have trisomy 21

2007 Paul Billiet ODWS

Chromosomal Abnormalities

Numerical Structural

Normal Karyotypes

Female Male

Nondisjunction during meiosis I

MEIOSIS I
Replicate DNA

Non-disjunction

MEIOSIS II

Disomic gametes

Nullisomic gametes

Nondisjunction during meiosis II

MEIOSIS I
Replicate DNA

MEIOSIS II

Non-disjunction

Disomic

Nullisomic

Monosomic

Monosomic gametes

Numerical chromosomal abnormalities

I. Chromosomal Variations A. Polyploidy B. Aneuploidy II. Syndromes resulting from Aneuploidy A. Trisomy 13 B. Trisomy 18 C. Down Syndrome D. Turner Syndrome E. Klinefelter Syndrome F. XYY Syndrome

Variations in Chromosomal Number

Euploidy the usual number and sets of chromosomes Polyploidy the presence of three or more complete sets of chromosomes Aneuploidy the presence of additional chromosomes or missing individual chromosomes

Types of Polyploidy

Triploidy three sets of chromosomes 23 x 3 = 69

Tetraploidy four sets of chromosomes 23 x 4 = 92

Types of Aneuploidy

Monosomy one less chromosome (23 x 2) 1 = 45 Trisomy one additional chromosome (23 x 2) + 1 = 47

Aneuploidy

When aneuploidy occurs in humans, syndromes can result. Examples include the following: 1. Trisomy 13 2. Trisomy 18 3. Down Syndrome 3. Turner Syndrome 4. Klinefelter Syndrome 5. XYY Syndrome

MUTATIONS
What type of mutation involves the presence of extra chromosomes or the deletion of chromosomes?

Trisomy: any extra chromosome

Nondisjunction!!!!!
In trisomy cases, you end up with 47 chromosomes instead of 46

Klinefelters syndrome has the genotype XXY

An Example of Trisomy

Downs Syndrome
a.k.a- trisomy 21 Shorthand: 47, XY or XX, +21 XY is male XX is female Survival rate is very high for this nondisjunction!

Down Syndrome

The non-disjunction rate increases with Moms age Trisomy 21 is one of the most common causes of mental retardation (IQ between 25-74).

An average person has an IQ between 90-110.

This results in a number of characteristic features: Short stature, broad hands, stubby fingers and toes, a wide rounded face, a large protruding tongue that makes speech difficult. Individuals with this syndrome have a high incidence of respiratory infections, heart defects, and leukemia.

Down Syndrome

Incidence: 1/750 live births.

Mothers in their early twenties have a risk of 1/1,500. Women over 35 have a risk factor of 1/70, which jumps to 1/25 for women 45 and over.

Edwards Syndrome

This karyotype demonstrates trisomy 18 Shorthand: (47, XY, +18).

- Incidence is only 1 in 11, 000 live births. - It is uncommon for fetuses with this condition to survive

What can a survivor expect?

30% of these children die within the first month and only 10% survive one year. There is severe mental retardation. Other characteristics:

elongated skull, a very narrow pelvis, rocker bottom feet. the ears are often low set and the mouth and teeth are small. nearly all babies born with this condition die in early infancy.

Edwards Trisomy 18

Characteristics:

Ave life span = 2-4 months Small at birth Clenched fists with overlapping fingers Rocker bottom feet with protruding heels Elongated skull Low set ears Congenital heart problems Mental retardation

Other Trisomies of Interest:

Trisomy 16 This is the most common chromosomal abnormality, but the fetuses NEVER Many first trimester fetuses are survive past lost in this fashion (many are the first "silent" abortions). trimester.

Trisomy 13: Patau Syndrome

Shorthand: (47, XX, +13). Occurrence:

Only 1 in 15,000 live births. (most aborted naturally)

Survival:

Forty five percent die within the first month 90% by six months Less than 5% reach 3 years.

Why is death so frequent?

There is severely abnormal cerebral functions and virtually always leads to death in early infancy.

Pataus Trisomy 13

Trisomy 13 Characteristics:

Ave life span = 6 months Cleft lip and palate Small eyes Polydactyly Congenital heart defects Severe CNS disorders

Monosomy- having one fewer chromosome in each body cell.

Only have 1 X! This is Turners syndrome

Generally, if a chromosomal mutations occurs during meiosis, one half of the gametes will have monosomy and the other half will have trisomy

Turners Syndrome
1 in 5,000 births 45 chromosomes X only (X0)

#23 Monosomy Nondisjunction

96-98% do not survive to birth No menstruation No breast development Narrow hips Broad shoulders and neck

Turners Syndrome
Women with Turner's syndrome can live relatively normal lives, though they are unable to bear children. The phenotype of this female includes short stature, short broad neck, and a broad chest. Intelligence does not seem to be affected.

What is a chromosomal structural mutation?

A mutation that involves the

Addition Translocation Deletion Non-disjunction

Single Chromosome Disorders

1. Deletion
Genetic material is missing

2. Duplication
Genetic material is present twice

3. Inversion
Genetic material is flipped

Two Chromosome Disorders (Both types are called translocation)

Insertion
Genetic material is added from another chromosome

Translocation
Material is swapped with another chromosome

Translocations

A section of a chromosome is moved from one chromosome to another! The material is not lost, but inserted in a place where it is non- functional

A Robertsonian translocation of chromosomes 13 and 14, (15,21,22) an end to end fusion of the two chromosomes

Lets see that up close!

Robertsonian translocation

During a Robertsonian translocation, the participating chromosomes break at their centromeres and the long arms fuse to form a single chromosome with a single centromere. The short arms also join to form a reciprocal product, which typically contains nonessential genes and is usually lost within a few cell divisions.

Robertsonian translocation

A Robertsonian translocation results when the long arms of two acrocentric chromosomes fuse at the centromere and the two short arms are lost. In this case, the long arms of chromosomes 13 and 14 have fused, but no genetic material was lost - this person is completely normal despite the translocation. Common Robertsonian translocations are confined to the acrocentric chromosomes 13, 14, 15, 21 and 22, because the short arms of these chromosomes encode for rRNA which is present in multiple copies.

Robertsonian translocation

Most people with Robertsonian translocations have only 45 chromosomes in each of their cells, yet all essential genetic material is present, and they appear normal. Their children, however, may either be normal and carry the fusion chromosome (depending which chromosome is represented in the gamete), or they may inherit a missing or extra long arm of an acrocentric chromosome.

Onto Deletions!

Deletions

Loss of a chromosome segment Examples:

Cri du chat

1/100,000 live births Deletion at 5p1 Defects in the larynx Cat like cry Mild to severe mental retardation Defects in facial development Cleft palate Wide spaced eyes

Cri du Chat
Cry of the Cat individuals sound like cats crying. Why? The larynx of the child is improperly developed.

Fun Facts About The Cat

The cause of this condition is a deletion of about half of the short arm of chromosome 5. Cri-du-chat babies are severely mentally retarded, round face, low set ears, heart disease, and have a small cranium. Occurrence:

1/1,000,000 live births. Karyotype: 46XX or 46 XY with chromosome #5 upper arm deletion.

Prader Willi

1/10,000 1/25,000 Deletion in 15q1.11 - .13 Compulsive eating Obesity Poor sexual development in males

Hypogonadism fertility problems Reduced secondary characteristics

Behavioral problems Varying degrees of mental retardation Speech impediments Poor muscle tone, floppy baby Poor sucking reflex

Aniridia-Wilms Tumor Syndrome

1 in 50,000,000 births
46 chromosomes XY or XX

#11 Deletion of upper arm

Duplications

Formed through unequal crossing over May have been important in evolution of repetitive sequences More repeats, the more unequal crossing over

Fig. 21.8 Unequal crossing-over and the Bar mutant of Drosophila

601 20000 Chapter 21 slide 72 Peter J. Russell, iGenetics: Copyright Pearson Education, Inc., publishing as Benjamin Cummings.

Inversions

No genetic loss = No problem Break points within a gene, it will disrupt gene function Disrupts gene regulation increasing cancer Disrupts linkage arrangements order of genes

Fig. 21.9 Inversions

601 20000 Chapter 21 slide 74 Peter J. Russell, iGenetics: Copyright Pearson Education, Inc., publishing as Benjamin Cummings.

Inversions

The most common inversion seen in humans is on chromosome 9, at inv(9)(p12q13). This inversion is generally considered to have no deleterious or harmful effects, but there is some evidence it leads to an increased risk for miscarriage for about 30% of affected couples.

The Sex-linked Trisomies!

Klinefelters Syndrome

Shorthand: 47, XXY Supermale

Jacobs Syndrome

Shorthand: 47, XYY The not so supermale

Kleinfelters syndrome
(or Klinefleters)

Disorder occurring due to nondisjunction of the X chromosome. The Sperm containing both X and Y combines with an egg containing the X, results in a male child. The egg may contribute the extra X chromosome.

XXY

Males with some development of breast tissue normally seen in females. Little body hair is present, and such person are typically tall, have small testes. Infertility results from absent sperm. Evidence of mental retardation may or may not be present.

Klinefleters

Jacobs Syndrome
1 in 1,800 births
47 chromosomes XYY only 47XYY #23 Trisomy Nondisjunction

Jacobs Syndrome
Normal

physically Normal mentally Increase in testosterone Perhaps more aggressive Normal lifespan