Chapter 5

The Chromosomal Basis of

Mendelism
The male Drosophila has white eyes because it carries a mutation on its X chromosome.
 Chromosomes

Each species has a characteristic

set of chromosomes.
Each species has a characteristic set of chromosomes
Sex Chromosomes in
Grasshoppers

• Females are XX
• Males are XO (O :
absence of a
chromosome)
Sex Chromosomes in Humans

• Females are XX
• Males are XY

• During meiosis in
males, the X and Y
chromosomes pair
The discovery of
sex chromosomes
stimulated research
on the possible • Sex chromosomes
relationships
between Mendel’s
• Autosomes
principles and the
meiotic behavior of
chromosomes.
 Key Points
Individual chromosomes become visible
during cell division; between divisions they
form a diffuse network of fibers called
chromatin.
Diploid somatic cells have twice as many
chromosomes as haploid gametes.
Sex chromosomes are different between the
two sexes, whereas autosomes are the same.
 The Chromosome Theory of
Heredity

Studies on the inheritance of a sex-linked trait in

Drosophila provided the first evidence that the
meiotic behavior of chromosomes is the basis for
Mendel’s Principles of Segregation and Independent
Assortment.
Morgan’s experiment studying the inheritance of the inheritance of white
eyes in Drosophila
Hemizygote: an
organism that has only
one copy of a gene

All daughters red.

only half of sons white,

suggesting that the eye
color gene is linked to the
sex chromosome.

The transmission of the

mutant condition in
association with sex
suggested that the gene
for eye color was
present on the X
chromosome but not on
the Y chromosome.
Half of each sex had white eyes.
 Recessive mutations of
these genes were
transmitted along with
the X chromosome.

In F1, All daughters had red, all sons had white eyes.
 Nondisjunction as Proof of the
Chromosome Theory of Heredity
X chromosome nondisjunction is responsible for the exceptional progeny

Bridges confirmed the chromosome

constitutions of these exceptional
flies by direct cytological observation.

In Drosophila, the Y chromosome

Diplo-X egg has nothing to do with the
determination of the sexual
phenotype. However, this
chromosome must be important for
male sexual function.
← exceptional, sterile

exceptional, producing a high frequency of exceptional progeny

 The Principle of Segregation
Mendel’s Principle of Segregation and meiotic chromosome behavior

© John Wiley & Sons, Inc.

 The Principle of Independent Assortment

Mendel’s Principle of
Independent Assortment
and meiotic chromosome
behavior

AB Ab
_ _ or _ _

ab aB

Random alignment of different pairs of chromosomes at metaphase

Sex-Linked Genes in Humans
X- and Y-linked genes have been
studied in humans.

Recessive X-linked traits are much more easily identified than

are recessive autosomal traits. A male needs only to inherit
one recessive allele to show an X-linked trait.

Hemophilia, an X-linked blood-clotting disorder

Color Blindness, an X-linked vision disorder
An X-Linked Recessive Disorder:
Hemophilia

Carrier

Prince
© John Wiley & Sons, Inc.
 사망

© John Wiley & Sons, Inc.

 루이 아서 찰스

© John Wiley & Sons, Inc.

The Russian Imperial Family of Czar Nicholas II
 Simplified pathway of blood
coagulation in humans

© John Wiley & Sons, Inc.

Calculating the Risk of Inheriting an X-
Linked Disorder: Colorblindness
The Y Chromosome
• Few genes on the Y chromosome

• Few Y-linked traits

• Pseudoautosomal genes are on

both the X and Y chromosomes

Genes on the human Y chromosome

- Human Genome Project: 307 genes
(1000 genes on X)
- no apparent Y-linked traits: all
required for male fertility
Cell paper
Genetics Select

Faster, smaller, easier, and better—DNA sequencing technologies have

improved by quantum leaps in the past decade.
This Genetics Select highlights recent studies that demonstrate how
these technological advances have greatly expanded the scope and
power of human genetics, especially in the blossoming fields of
personalized medicine and palaeogenetics.

Who Dat Ancestor?

sequence the complete genome of a Saqqaq Eskimo man who lived in
one of the first cultures in Greenland approximately 4000 years ago.
Derived from a tuft of hair preserved in permafrost.

As a result, the authors recovered 80% of the diploid genome and over
350,000 single-nucleotide polymorphisms (SNPs): he had brown eyes,
dark skin, and blood type A(Rh+). His dark, thick hair had a tendency for
Artist reconstruction of
balding, and his metabolism was adapted for cold weather.
the Palaeo-Eskimo
man based
A comparison of the Palaeo-Eskimo’s SNPs with genomic data from
on single-nucleotide
modern humans suggests that the first Greenlanders probably crossed
polymorphism (SNP)
the Bering Strait independently of the ancestors of present-day Native
analysis.
Americans.
Drawing by and courtesy of
M. Rasmussen et al. (2010). Nature 463, 757–762.
N. Gotfredsen
 Sex Chromosomes and
Sex Determination
In some organisms, chromosomes, in particular, the sex
chromosomes determine male and female phenotypes.

Sex determination in some animals: by environment factors, such as temperature

in one species of turtles, over 30 oC, female
놀래기 (pudding wife; Halichoeres tenuispinis)
수컷 + 3-4 암컷 + 유어 (태어날때는 모두 암컷)
감성돔: 3살까지는 수컷, 그 이후는 암컷
In others, by genetic factors
Number of X or Presence or absence of Y
© John Wiley & Sons, Inc.
Sex Determination in Human Beings:
The Presence the Y Chromosome
 The SRY gene and the
Testis-Determining Factor (TDF)
Evidence localizing the gene for the TDF to the short arm of the Y chromosome.
 Testicular Feminization
caused by an X-linked mutation, tfm, that prevents the production of the
testosterone receptor

Male (XY) showing the Female 2nd characteristics

남자도 여자도 아닌 '중성인' 세계 첫 공인
(2010 3월 16일)

[아시아투데이=공민영 기자 ] 남성도 여성도 아닌 ‘중성’으로

공인받은 사람이 탄생했다.
영국 일간지 텔레프라프는 15일, 호주에 거주하는 영국인
노리 메이-
웰비(48)가 세계 최초로 중성으로 공인받았다고 보도했다.
스코틀랜드의 렌프루셔에서 남자아이로 태어난 메이-웰비는
7살이 되던 해 호주로
이주했고, 1990년 성전환 수술을 받고 여성이 됐다.
그러나 여성으로서도 행복을 느끼지 못했던 메이-웰비는 중성이
되기로 결심했다. 의사들이 그의 신체가 남성인지 여성인지
분명히 결정할 수 없다고 밝힌 후, 영국 정부 관리들은 메이-
웰비를 위해 출생 증명서에 ‘성별없음’(no-gender)이라는 새로운
유형을 추가했다.
메이-웰비는 “남성 혹은 여성이라는 개념은 나에게 맞지 않다”며,
“가장 간단한 해결책은 어떤 성별도 가지지 않는 것이다”라고
말했다.
한편, 영국 성전환자 지지단체인 ‘젠더 트러스트(Gender
Trust)’는 이번 결정을 환영하며 “많은 사람들이 남녀의 구분을
뛰어 넘는 발상을 환영할 것”이라고
밝혔다
Sex Determination in Drosophila:
The Ratio of X Chromosomes to Autosomes

X ratio to A
- 1.0 or greater : female
- 0.5 or less : male
- Y : no effect on sexual phenotype, but required for
male fertility
(A: sets of autosomes)
Sex determination in other animals

- heterogametic: producing two kinds of

gametes (human, Drosophila male)

- homogametic : producing one kind of gametes

(human, Drosophila female)

- birds, butterflies: situations reversed

- honeybees: haploid or diploid animals

© John Wiley & Sons, Inc.
Other Sex Determination Mechanisms:
The ZW System

- birds, butterflies
Other Sex Determination Systems:
The Haplo-Diplo System

honeybees
 Dosage Compensation of X-Linked Genes
Different mechanisms adjust for the unequal dosage of X-linked
genes in male and female animals.

• Hyperactivation of X-linked genes in males (Drosophila)

a complex of different proteins that binds to many sites on
the X chromosome in males and triggers a doubling of gene
activity

• Inactivation of one copy of X-linked genes in females

(mammals)

• Down regulation of X-linked genes in females

(Caenorhabditis elegans)
X Inactivation in mammals

• inactivation: coating
with the Xist RNA
• 1961, Mary Lyon

- genetic mosaics

- Barr body
 Mosaicism
Color mosaics resulting from X chromosome inactivation in female mammals
occurring at about the time of gastrulation (낭배형성) in the
epiblast (cells that will give rise to the embryo)
© John Wiley & Sons, Inc.
The Barr Body