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Chapter 5

Chapter 5 discusses the mechanisms of sex determination, highlighting four chromosomal systems: XY, ZW, X0, and compound chromosome cases. It explains how genes on sex chromosomes and environmental factors influence sex, with specific examples from various organisms. The chapter also covers dosage compensation in mammals and the role of electrophoresis in genetic research.

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10 views3 pages

Chapter 5

Chapter 5 discusses the mechanisms of sex determination, highlighting four chromosomal systems: XY, ZW, X0, and compound chromosome cases. It explains how genes on sex chromosomes and environmental factors influence sex, with specific examples from various organisms. The chapter also covers dosage compensation in mammals and the role of electrophoresis in genetic research.

Uploaded by

Aya Carina Sabrina Cole
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Chapter 5

SEX DETERMINATION

At the end of this chapter, pre-service teachers are expected to:


1. Discuss the four types of chromosomal sex-determining mechanisms.

The chromosomal theory of heredity, stated lucidly in 1903 by Walter Sutton,


tells that genes are located on chromosomes. In 1910, Thomas Hunt Morgan, a 1933
Nobel laureate, published a paper on the inheritance of white eyes in fruit flies. The mode
of inheritance for this trait led inevitably to the conclusion that the locus for this gene is on
a chromosome that determines the sex of the flies: when a white-eyed male was mated
with a red-eyed female, half of the F2 sons were white-eyed and half were red-eyed; all
F2 daughters were red-eyed.

Not only was this the first evidence that localized a particular gene to a particular
chromosome, but this study also laid the foundation for our understanding of the genetic
control of sex determination.

Occurring Patterns

The sex of an organism depends on a very complicated series of developmental


changes under genetic and hormonal control. However, often one or a few genes can
determine which pathway of development an organism takes. Those “switch genes” are
located on the sex chromosomes. However, sex chromosomes are not the only
determinants of an organism’s sex. Others are:
• Ploidy, or the number of sets of chromosomes in a cell of an individual. This
happens in many hymenoptera (example are bees, ants, wasps); males are
haploid and females are diploid.
• Environmental factors may also control sex. For example, temperature
determines the sex of some geckos, and the sex of some marine worms and
gastropods depends on the substrate on which they land.

Sex Chromosomes

There four types of chromosomal sex-determining mechanisms:


1. XY case – here, the females have a homomorphic pair of chromosomes (XX) and
males are heteromorphic (XY). This is the mechanism for human beings and fruit flies.
2. ZW case – here, males are homomorphic (ZZ), and females are heteromorphic (ZW).
This situation occurs in birds, some fishes, and moths.
(Note: XY and ZW are chromosome notations and imply nothing about the sizes or
shapes of these chromosomes.)
3. X0 case – here, the organism has only one sex chromosome; females are usually XX
and males X0. This is the case for some grasshoppers and beetles.
4. Compound chromosome case – here, several X and Y chromosomes combine to
determine sex. This occurs in bedbugs and some beetles. In addition, compound
chromosomal systems tend to be complex. For example, Ascaris incurva, a nematode,
has eight X chromosomes and one Y. The species has 26 autosomes. Males have 35
chromosomes (26A + 8X + Y), and females have 42 chromosomes (26A + 16X).
During meiosis, the X chromosomes unite end to end and so behave as one unit.

However, it should be pointed out that the chromosomes themselves do not


determine sex, but the genes they carry do. In general, the genotype determines the
type of gonad, which then determines the phenotype of the organism through male or
female hormonal production.

The XY System

The XY situation occurs in human beings, in which females have 46 chromosomes


arranged in 23 homologous, homomorphic pairs. Males, with the same number of
chromosomes, have 22 homomorphic pairs and 1 heteromorphic pair, the XY pair.

During meiosis, females produce gametes that contain only the X chromosome,
whereas males produce two kinds of gametes, X- and Y-bearing. For this reason, females
are referred to as homogametic and males as heterogametic.

In Drosophila, the system is the same, but the Y chromosome is almost 20% larger
than the X chromosome. However, for a fact, an X0 individual is a Drosophila male and
a human female. To point out:
• In Drosophila, sex is determined by the balance between genes on the X
chromosome and genes on the autosomes that regulate the state of the sex-switch
gene, Sxl. A sex-switch gene has been discovered that directs female development.
This gene, Sex-lethal (Sxl), is located on the X chromosome. It was originally called
female lethal because mutations of this gene
killed female embryos. Apparently, Sxl has two
states of activity: When it is “on,” it directs
female development; when it is “off,” maleness
ensues.
• In human beings, a locus on the Y
chromosome determines maleness. This locus
is the SRY. In 1991, Robin Lovell-Badge and
Peter Goodfellow and their colleagues in
England isolated a gene called Sex-
determining Region Y (SRY) from mice. It
has been positively identified as the testis-
determining factor because, when injected
into normal (XX) female mice, it caused them
to develop as males.

Dosage Compensation

How does the organism compensate for the dosage difference between the sexes,
given the potential for serious abnormality? In general, an incorrect number of autosomes
is usually highly deleterious to an organism. In human beings and other mammals, the
necessary dosage compensation is accomplished by the inactivation of one of the X
chromosomes in females so that both males and females have only one functional X
chromosome per cell.

In 1949, Murray Llewellyn Barr and Ewart George Bertram first observed a
condensed body in the nucleus that was not the nucleolus. Noting that normal female
cats show a single condensed body, while males show none, these researchers referred
to the body as sex chromatin, since known as a Barr body.

Mary Lyon then suggested that this Barr body represented an inactive X
chromosome, which in females becomes tightly coiled into heterochromatin, a
condensed, and therefore visible, form of chromatin. Various lines of evidence support
the Lyon hypothesis that only one X chromosome is active in any cell. First, XXY males
have a Barr body, whereas X0 females have none. Second, persons with abnormal
numbers of X chromosomes have one fewer Barr body than they have X chromosomes
per cell: XXX females have two Barr bodies, XXXX females have three.

Electrophoresis

Electrophoresis, a technique for separating relatively similar types of molecules


(for example, proteins and nucleic acids), has opened up new and exciting areas of
research in population, biochemical, and molecular genetics. It has allowed us to see
variations in large numbers of loci, previously difficult or impossible to sample.

In biochemical genetics, electrophoretic techniques can be used to study enzyme


pathways. In molecular genetics, electrophoresis is used to sequence nucleotides and to
assign various loci to particular chromosomes. In population genetics, electrophoresis
has made it possible to estimate the amount of variability that occurs in natural
populations.

* * * END * * *

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