Sex determination in Mammals and Drosophila.

PRESENTED BY
Rajkumar.M M.Sc. 1st Sem Dept. Of Bio-technology Bangalore University

INTRODUCTION
Sex determination.
A sex determination system is a biological system that determines the development of sexual characteristics in an organism.

Life cycle depend on sexual Differentiation.

Primary sexual differentiation. Secondary sexual differentiation.

Primary sexual differentiation.

which involves only the gonads, where gametes are produced.

Secondary sexual differentiation.

Which involves the overall appearance the organism, including clear difference in such organs as mammary glands and external genitalia as well as in nonproductive organs. Unisexual,dioecious and Gonochoric equivalent they all are refer to an individual containing only male or female reproductive organs.

Bisexual,Monoecious and hermaphroditic refer to individual containing both male and female reproductive organs.

Mechanism Of sex Determination

1)Environmental 2)Chromosomal 3)Genic mechanism

Sex Determination in Mammals (ex:human)

In addition, a highly consistent difference between human male and female is found in the cytology of their interphase nuclei. Interphase nuclei of female have dark staining, relatively regular mass of chromatin,known as Sex chromatin or Barr body. Which is absent in male. The presence of Barr body is universally accepted as an unambiguous indication o femaleness of a human individual. And is the basis of sex test in cases of controversy. Barr body is produced due to the heterochromatinization of one of the two X-Chromosomes.

Chromosomal sex determination in Mammals

There are two types o chromosome. 1)Autosomes: The number and morphology do not differ between male and female of a species are called Autosomes. 2)Allosomes: An allosome is a sex chromosome that differ from an ordinary autosome in form, size and behavior. There are two types of sex chromosomes: X and Y. The X chromosome found in both males and females, although one sex has only one while the other sex has two X chromosomes. The Y chromosome ordinarily occurs only in one of the two sexes of a species.

XX Female, XY Male:(Human)
In this females are the homogametic sex as they have two X chromosomes. There fore, all the eggs produced by females have one X chromosome each. The males on the other hand have one X and one Y Chromosome.therfore half of the sperms produced by them have an X chromosomes, while the rest have a Y chromosome. Thus the males of these species are the heterogametic sex.

 In humans, the short arm of X chromosome (Xs) is homologous the long arm of Y (Yl). There are normal pairing and crossing over between (Xs) and one Yl. So that the genes located on Xs shows normal disomic inheritance. Thus both human males and females have two copies of Xs (in males one Xs and one Yl) which is essential for their normal development.

Karyotype study in Humans:

The characteristics of chromosome component with reference to the comparative size and shape morphology o the different chromosomes called as karyotype The normal human karyotype contains 46 chromosomes i.e. 44 autosomes and XX sex chromosomes in females and 44 autosomes and XY sex chromosomes in males. The 22 pair are numbered in descending order of the length and are further classified into 7 groups according the position of the centromere.

NORMAL MALE
The chromosome formula for a normal male is 2n (diploid).Normal males are referred to as heterogametes i.e. male produce two types of gametes X-bearing and Y-bearing. Y-Chromosome is smaller than the X-Chromosome. And Y is maleness determining factor.

NORMAL FEMALE
Normal female are referred to as homogametic as they produce only one type of gametes i.e. X-bearing gametes. In case of normal female all the 23pairs of chromosome are referred as homomrphic.

Normal Female and Male Karyotype

ABNORMAL HUMAN KARYOTYPE:

DOWNS SYNDROME:
This is an autosomal disorder. Identified by John London Down (1866). Hence it is called as Downs syndrome. This is due to presence of 3 chromosome in the 21st pair. Hence it is also regarded as 21st trisomy.

Downs syndrome

Clinical features of Downs Syndrome

Mentally retarded :IQ ranges from 25-75 Short stature and poor muscle (hypotonia) Small head circumstances (Microcephaly) Sagging mouth with a swollen lower lip and thick tongue Small and slanty eye balls Reduced limbs with stubby fingers and toes Small low-set malfunctioned ears No sexual maturity Hyper flexibility of joints Palate is high-arched and dentition may be delayed Enlarged forehead and flattened nose Obesity

CRY-DU-CHAT SYNDROME:
This is caused due to deletion. The deletion occurs on a segment of short arm of chromosome 5. Generally this occur during gametogenesis. This is also called 5p minus syndrome.

Clinical features of Cri-Du-Chat Syndrome

Monotone, weak, cat-like cry Small head(Microcephaly) Severe mental retardation; IQ ranges from 20-40 Malformation of heart, brain, kidney, skeleton Widely spaced eyes High palate Round face and low nasal bridge Folds of skin cover the upper eye lid(Epicanthic folds) Distinctive palmar creases Small reducing chin

KLINE FELTER SYNDROME

This individual (male) suffering from this syndrome posses an extra X-Chromosome in addition to their diploid member (44A+XXY) Totally these are 47 chromosome. The individual are phenotypically male with feminine character.

TURNERS SYNDROME:
This occurs due to the deletion of one of the sex chromosome.ie X-Chromosome. The individual will be a female with a complete of 44A+X there fore they will have 45 chromosome.

Karyotype of Klinefelter and Turners Syndrome

Clinical features of Klinefelter Syndrome

o o o o o o o o o

The major characteristics are low testosterone after adolescence. They appear fat and are sterile. Secondary sexual characters does not develop fully. Pubic and facial hairs are scanty. They exhibit gynaecomastia The individuals show presence of barr bodies The mental retardation is seen to a certain extent. The level of androgen is low. The testis are small and not well developed.

Clinical features of turners syndrome

Short stature or dwarfs Presence of webbed neck May be normal or slightly mental retardation Low set ears, broad chest Process poorly developed ovaries and underdeveloped breasts They have limited secondary sexual characters Congenital heart defects Amenorrhea i.e. absence of menstruation The interface nuclei is without Barr body

Sex determination in Drosophila.

The Ratio of X-Chromosomal to sets of Autosomes Determines Sex in Drosophila.
The elegant work of Calvin Bridges in 1916. studies of flies with quite varied chromosome composition led him to the conclusion that the Y-Chromosome is not involved in sex determination in this organism. Instead Bridges proposed that the X-Chromosomes and autosomes together play a critical role in sex determination.

Bridge work can be divided into two phases 1) A study of offspring resulting from non dis junction of the x chromosomes. During meiosis in females.

2) Subsequent work with progeny of females containing three copies of each chromosomes called triploid (3n) females.

 Bridges found that the XXY flies were normal females and the XO flies where sterile males. The presence of the Y chromosome in XXY flies did not cause maleness and its absence in X0 flies did not produce femaleness. From these data he concluded that the Y chromosome in drosophila lacks male determining factors.

 The ratio of number of X-Chromosomes and number of autosomal sets present in an individual shows sex determination in Drosophila.

GYNANDROMORPH:
In Drosophila some individual, show male characters in a part of their body. While their remaining parts shows the female phenotype such individuals are known as Gynandromorph. Gynandromorph are always mosaic for the XChromosome the part with male phenotype are always XO, while these with the female phenotype are XX.

A bilateral gynandromorph of Drosophila melanogaster

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