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Chromosomal Basis of Inheritance. Biology 112. Locating Genes Along Chromosomes. Mendel’s “hereditary factors” were genes, though this wasn’t known during his time Today know that genes are located on chromosomes

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Locating genes along chromosomes
Locating Genes Along Chromosomes

  • Mendel’s “hereditary factors” were genes, though this wasn’t known during his time

  • Today know that genes are located on chromosomes

  • The location of a particular gene can be seen by tagging isolated chromosomes with a fluorescent dye that highlights the gene


Mendelian inheritance has its physical basis in the behavior of chromosomes
Mendelian inheritance has its physical basis in the behavior of chromosomes

  • The chromosome theory of inheritance states:

    • Mendelian genes have specific loci (positions) on chromosomes

    • Chromosomes undergo segregation and independent assortment

  • The behavior of chromosomes during meiosis can be said to account for Mendel’s laws of segregation and independent assortment


Fig. 15-2 of chromosomes

P Generation

Yellow-round

seeds (YYRR)

Green-wrinkled

seeds (yyrr)

y

Y

r

R

r

R

Y

y

Meiosis

Fertilization

r

y

Y

R

Gametes

All F1 plants produce

yellow-round seeds (YyRr)

F1 Generation

R

R

y

y

r

r

Y

Y

LAW OF SEGREGATION

The two alleles for each gene

separate during gamete

formation.

LAW OF INDEPENDENT

ASSORTMENT Alleles of genes

on nonhomologous

chromosomes assort

independently during gamete

formation.

Meiosis

r

r

R

R

Metaphase I

y

Y

y

Y

1

1

r

r

R

R

Anaphase I

Y

y

Y

y

Metaphase II

r

R

R

r

2

2

y

Y

y

Y

y

Y

Y

y

Y

y

y

Y

Gametes

r

R

r

r

R

r

R

R

1/4

1/4

1/4

1/4

yr

yR

YR

Yr

F2 Generation

An F1  F1 cross-fertilization

3

3

: 1

: 3

9

: 3


Thomas hunt morgan
Thomas Hunt Morgan of chromosomes

  • Drosophila melanogaster


Morgan s experimental evidence
Morgan’s Experimental Evidence of chromosomes

  • The first solid evidence associating a specific gene with a specific chromosome came from Thomas Hunt Morgan

  • Morgan’s experiments with fruit flies provided convincing evidence that chromosomes are the location of Mendel’s heritable factors

  • Several characteristics make fruit flies a convenient organism for genetic studies:

    • They breed at a high rate

    • A generation can be bred every two weeks

    • They have only four pairs of chromosomes


  • Morgan noted of chromosomeswild type, or normal, phenotypes that were common in the fly populations

  • Traits alternative to the wild type are called mutant phenotypes


Sex linked genes
Sex-Linked Genes of chromosomes

  • Sex-Linked genes: Genes located on sex chromosomes.

    • This term is commonly applied to genes on the X chromosome

  • In one experiment, Morgan mated male flies with white eyes (mutant) with female flies with red eyes (wild type)

    • The F1 generation all had red eyes

    • The F2 generation showed the 3:1 red:white eye ratio, but only males had white eyes

  • Morgan determined that the white-eyed mutant allele must be located on the X chromosome


Fig. 15-4 of chromosomes

EXPERIMENT

P

Generation

F1

All offspring had red eyes

Generation

RESULTS

F2

Generation

CONCLUSION

+

P

w

w

X

X

Generation

X

Y

+

w

w

Sperm

Eggs

+

+

F1

w

w

+

Generation

w

w

+

w

Sperm

Eggs

+

+

w

w

+

F2

w

Generation

+

w

w

w

w

+

w


Linked genes
Linked genes of chromosomes

  • Each chromosome has hundreds or thousands of genes

  • Genes located on the same chromosome that tend to be inherited together are called linked genes

  • Linked genes tend to be inherited together because they are located near each other on the same chromosome


Linkage affects inheritance
Linkage of chromosomesAffects Inheritance

  • Morgan did some experiments with fruit flies to see how linkage affects inheritance of two characters

  • Morgan crossed flies that differed in traits of body color and wing size


  • Morgan found that body color and wing size are of chromosomesusually inherited together in specific combinations (parental phenotypes)

  • He noted that these genes do not assort independently, and reasoned that they were on the same chromosome

  • However, nonparental phenotypes were also produced

  • Genetic recombinationoccured: the production of offspring with combinations of traits differing from either parent


Fig. 15-UN1 of chromosomes

b vg

b+vg+

Parents

in testcross

b vg

b vg

b vg

b+vg+

Most

offspring

or

b vg

b vg


Fig. 15-9-4 of chromosomes

EXPERIMENT

P Generation (homozygous)

Wild type

(gray body,

normal wings)

Double mutant

(black body,

vestigial wings)

b b vg vg

b+ b+ vg+ vg+

F1 dihybrid

(wild type)

Double mutant

TESTCROSS

b+ b vg+ vg

b b vg vg

Testcross

offspring

b+ vg+

b vg

b+ vg

b vg+

Eggs

Black-

normal

Wild type

(gray-normal)

Black-

vestigial

Gray-

vestigial

b vg

Sperm

b b vg+ vg

b+ b vg+ vg

b b vg vg

b+ b vg vg

PREDICTED RATIOS

1

If genes are located on different chromosomes:

1

:

:

:

1

1

If genes are located on the same chromosome and

parental alleles are always inherited together:

1

0

:

1

:

0

:

965

:

:

185

:

944

206

RESULTS


Recombination of unlinked genes independent assortment of chromosomes
Recombination of Unlinked Genes: Independent Assortment of Chromosomes

  • Mendel observed that combinations of traits in some offspring differ from either parent

  • Offspring with a phenotype matching one of the parental phenotypes are called parental types

  • Offspring with nonparental phenotypes (new combinations of traits) are called recombinant types, or recombinants

  • A 50% frequency of recombination is observed for any two genes on different chromosomes


Recombination of linked genes crossing over
Recombination of Linked Genes: Crossing Over Chromosomes

  • Morgan discovered that genes can be linked, but the linkage was incomplete, as evident from recombinant phenotypes

  • Morgan proposed that some process must sometimes break the physical connection between genes on the same chromosome

  • That mechanism was the crossing over of homologous chromosomes


Fig. 15-10 Chromosomes

Testcross

parents

Gray body, normal wings

(F1 dihybrid)

Black body, vestigial wings

(double mutant)

bvg

b+vg+

bvg

b vg

Replication

of chromo-

somes

Replication

of chromo-

somes

b+vg+

bvg

b+vg+

bvg

bvg

bvg

bvg

bvg

Meiosis I

b+vg+

Meiosis I and II

b+vg

bvg+

bvg

Meiosis II

Recombinant

chromosomes

bvg

bvg+

b+vg

b+vg+

Eggs

Testcross

offspring

965

Wild type

(gray-normal)

944

Black-

vestigial

206

Gray-

vestigial

185

Black-

normal

bvg

b+vg+

bvg

b+vg

bvg+

bvg

bvg

bvg

bvg

Sperm

Parental-type offspring

Recombinant offspring

391 recombinants

Recombination

frequency

 100 = 17%

=

2,300 total offspring


Fig. 15-10b Chromosomes

Recombinant

chromosomes

b+vg+

b+vg

bvg+

bvg

Eggs

944

Black-

vestigial

965

Wild type

(gray-normal)

185

Black-

normal

206

Gray-

vestigial

Testcross

offspring

bvg

b+vg+

bvg

bvg+

b+vg

bvg

bvg

bvg

bvg

Sperm

Recombinant offspring

Parental-type offspring

391 recombinants

Recombination

frequency

 100 = 17%

=

2,300 total offspring


Mapping the distance between genes using recombination data
Mapping the Distance Between Genes Using Recombination Data Chromosomes

  • Genetic map, an ordered list of the genetic loci along a particular chromosome

  • The farther apart two genes are, the higher the probability that a crossover will occur between them and therefore the higher the recombination frequency


  • A Chromosomeslinkage map is a genetic map of a chromosome based on recombination frequencies

  • Distances between genes can be expressed as map units; one map unit, or centimorgan, represents a 1% recombination frequency

  • Map units indicate relative distance and order, not precise locations of genes


Fig. 15-11 Chromosomes

RESULTS

Recombination

frequencies

9%

9.5%

Chromosome

17%

b

cn

vg


Fig. 15-12 Chromosomes

Mutant phenotypes

Short

aristae

Cinnabar

eyes

Vestigial

wings

Brown

eyes

Black

body

0

48.5

57.5

67.0

104.5

Gray

body

Red

eyes

Normal

wings

Red

eyes

Long aristae

(appendages

on head)

Wild-type phenotypes




Sex systems in animals
Sex systems in animals develop cytogenetic maps of chromosomes


Fig. 15-6 develop cytogenetic maps of chromosomes

44 +

XX

44 +

XY

Parents

22 +

X

22 +

X

22 +

Y

or

+

Sperm

Egg

44 +

XX

44 +

XY

or

Zygotes (offspring)

(a) The X-Y system

22 +

XX

22 +

X

(b) The X-0 system

76 +

ZW

76 +

ZZ

(c) The Z-W system

32

(Diploid)

16

(Haploid)

(d) The haplo-diploid system


Inheritance of sex linked genes
Inheritance of Sex-Linked Genes develop cytogenetic maps of chromosomes

  • The sex chromosomes have genes for many characters unrelated to sex

  • A gene located on either sex chromosome is called a sex-linked gene

  • In humans, sex-linked usually refers to a gene on the larger X chromosome


  • Sex-linked genes follow specific patterns of develop cytogenetic maps of chromosomesinheritance

  • For a recessive sex-linked trait to be expressed

    • A female needs two copies of the allele

    • A male needs only one copy of the allele

  • Sex-linked recessive disorders are much more common in males than in females

  • Some disorders caused by recessive alleles on the X chromosome in humans:

    • Color blindness

    • Duchenne muscular dystrophy

    • Hemophilia


Fig. 15-7 develop cytogenetic maps of chromosomes

XnY

XnY

XNXN

XNXn

XNY

XNXn

Sperm

Sperm

Sperm

Xn

Y

XN

Xn

Y

Y

Eggs

Eggs

XNXN

Eggs

XNXn

XNY

XN

XNY

XN

XNXn

XNY

XN

XnXn

XnY

XNXn

XNY

XnXN

XnY

Xn

Xn

XN

(a)

(b)

(c)



X inactivation in female mammals
X Inactivation in Female Mammals chromosome in humans:

  • In mammalian females, one of the two X chromosomes in each cell is randomly inactivated during embryonic development

  • The inactive X condenses into a Barr body

  • If a female is heterozygous for a particular gene located on the X chromosome, she will be a mosaic for that character

  • DNA Methylation is the mechanism for X-inactivation

    • (methyl groups added to cytosine nucleotide in the DNA molecule)


Fig. 15-8 chromosome in humans:

X chromosomes

Allele for

orange fur

Early embryo:

Allele for

black fur

Cell division and

X chromosome

inactivation

Two cell

populations

in adult cat:

Active X

Inactive X

Active X

Black fur

Orange fur


Chromosomal alterations
Chromosomal Alterations chromosome in humans:

  • Large-scale chromosomal alterations often lead to spontaneous abortions (miscarriages) or cause a variety of developmental disorders…bad news!


Abnormal chromosome number
Abnormal Chromosome Number chromosome in humans:

  • In nondisjunction, pairs of homologous chromosomes do not separate normally during meiosis

  • As a result, one gamete receives two of the same type of chromosome, and another gamete receives no copy

  • Nondisjunction can also occur in mitosis


Fig. 15-13-3 chromosome in humans:

Meiosis I

Nondisjunction

Meiosis II

Nondisjunction

Gametes

n – 1

n + 1

n – 1

n

n

n + 1

n + 1

n – 1

Number of chromosomes

(b) Nondisjunction of sister

chromatids in meiosis II

(a) Nondisjunction of homologous

chromosomes in meiosis I

Nondisjunction video


Aneuploidy
Aneuploidy chromosome in humans:

  • Aneuploidy results from the fertilization of gametes in which nondisjunction occurred

  • Offspring with this condition have an abnormal number of a particular chromosome

  • A monosomic zygote has only one copy of a particular chromosome

  • A trisomic zygote has three copies of a particular chromosome


Polyploidy
Polyploidy chromosome in humans:

  • Polyploidy is a condition in which an organism has more than two complete sets of chromosomes

    • Triploidy (3n) is three sets of chromosomes

    • Tetraploidy (4n) is four sets of chromosomes

  • Polyploidy is common in plants, but not animals

  • Polyploids are more normal in appearance than aneuploids


Alterations of chromosome structure
Alterations of Chromosome Structure chromosome in humans:

  • Breakage of a chromosome can lead to four types of changes in chromosome structure:

    • Deletion removes a chromosomal segment

    • Duplication repeats a segment

    • Inversion reverses a segment within a chromosome

    • Translocation moves a segment from one chromosome to another


Fig. 15-15 chromosome in humans:

A B C D E F G H

A B C E F G H

Deletion

(a)

A B C D E F G H

A B C B C D E F G H

Duplication

(b)

A B C D E F G H

A D C B E F G H

Inversion

(c)

A B C D E F G H

M N O C D E F G H

(d)

Reciprocal

translocation

M N O P Q R

A B P Q R


Human disorders due to chromosomal alterations
Human Disorders Due to Chromosomal Alterations chromosome in humans:

  • Alterations of chromosome number and structure are associated with some serious disorders

  • Some types of aneuploidy appear to upset the genetic balance less than others, resulting in individuals surviving to birth and beyond

  • These surviving individuals have a set of symptoms, or syndrome, characteristic of the type of aneuploidy


Down syndrome trisomy 21
Down Syndrome (Trisomy 21) chromosome in humans:

  • Down syndrome is an aneuploid condition that results from three copies of chromosome 21

  • It affects about one out of every 700 children born in the United States

  • The frequency of Down syndrome increases with the age of the mother.


Aneuploidy of sex chromosomes
Aneuploidy chromosome in humans: of Sex Chromosomes

  • Nondisjunction of sex chromosomes produces a variety of aneuploidconditions

  • Males

    • Klinefeltersyndrome is the result of an extra chromosome in a male, producing sterile XXY individuals (1 in 2000 births?)

    • Extra Y (XYY)…apparently normal males (1 in 1000 births?)

  • Females

    • MonosomyX, called Turner syndrome, produces X0 females, who are sterile; it is the only known viable monosomy in humans (1 in 5000 births?)

    • Triple X Syndrome (XXX)…apparently normal females (1 in 1000 births?)


Genomic imprinting
Genomic Imprinting chromosome in humans:

  • For a few mammalian traits, the phenotype depends on which parent passed along the alleles for those traits

  • Such variation in phenotype is called genomic imprinting

  • Genomic imprinting involves the silencing of certain genes that are “stamped” with an imprint during gamete production

    • Causes certain genes to be differently expressed in the offspring depending upon whether the alleles were inherited from the ovum or from the sperm cell.


Triplet repeats
Triplet Repeats chromosome in humans:

  • Fragile-X syndrome (CGG)

  • Huntington’s disease (CAG)


Extranuclear genes
Extranuclear chromosome in humans: Genes

  • Extranuclear genes (or cytoplasmic genes)are genes found in organelles in the cytoplasm

  • Mitochondria, chloroplasts carry small circular DNA molecules

  • Extranuclear genes are inherited maternally because the zygote’s cytoplasm comes from the egg


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