Text 5. Sex Determination

One of the most fascinating marine animals is the slipper limpet, a mollusc with the intriguing scientific name of Crepidula fornicate. It was given this name because it has the surprising ability to change its sex. The limpets are immobile for most of their lives, growing in chains. The sex of each limpet depends on its size and its position in the chain. The young, small individuals are males, with long tapering penises which fertilise females lower in the chain. In due course, when a male has grown and has been settled on by another smaller limpet, the male loses its penis and grows into a female. Thus large females occur at the base of the chain, with animals changing sex above them, and males at the apex. In this way, the limpets have been able to combine immobility with internal fertilisation.

Sex chromosomes

There have been many weird and wonderful ideas about sex determination in humans. Some Ancient Greeks thought that the sex of a baby was determined by which testicle the sperm came from. Apparently, this belief was adopted by some European kings who tied off or removed their left testicle to ensure a male heir to the throne. Other people believed that the sex of a baby could be controlled by conceiving when the Moon was in a particular phase, when the wind was blowing in a certain direction, or whilst speaking certain words. We now know that human sex is determined by a pair of sex chromosomes called X and Y. Because these chromosomes do not look alike, they are sometimes called heterosomes. All other chromosomes are called autosomes.Females have two X chromosomes (XX). Males have one X and one Y chromosome (XY). Although the sex chromosomes determine the sex of an individual, it is important to realise that they do not carry all the genes responsible for the development of sexual characteristics.

During meiosis, the sex chromosomes pair up and segregate into the daughter cells. Males are called the heterogametic sex because they produce different sperm: approximately 50% contain an X chromosome and 50% have a Y chromosome. Females are called the homogametic sexbecause (usually) all of their eggs contain an X chromosome. This arrangement applies to all mammals and some insects (including Drosophila, the fruit fly commonly used in genetic experiments). However, in birds, moths, and butterflies, females are the heterogametic sex with the XY genotype (or XO, meaning the second sex chromosome may be absent). In some species, sex determination depends on a complex interaction between sex chromosomes and autosomes, or between inherited factors and environmental ones. The sex of some turtles, for example, depends on the temperature of the sand in which eggs are laid: those laid in sand warmed by the Sun develop into females; those laid in cool sand in the shade develop into males.

In humans, the father's sperm determines the sex of the baby: if a baby inherits a Y chromosome from its father it will be a boy; if it inherits an X chromosome from its father it will be a girl. So the sex of a baby depends on which sperm fertilises the egg cell: a sperm with an X chromosome or one with a Y chromosome. However, there are cases where having a Y chromosome does not necessarily mean that an embryo will become a boy.

The SRY gene

In the early stages of development, human embryos have no external genitalia. Whether they develop testes or ovaries depends on the presence and activity of a particular gene on the Y chromosome. This gene, called the sex related Y gene (SRY gene), was discovered in 1990 when geneticists were studying some interesting people: men who had two X chromosomes and women who had one X and one Y chromosome. Microscopical examination of the sex chromosomes of these people revealed that the XX males had a very small piece of Y chromosome in their X chromosomes, whereas this piece was missing from the Y chromosome of the XY females. The geneticists found the SRY gene within this small piece of Y chromosome.

The SRY gene codes for a protein called testis determining factor.This switches on other genes, causing the embryo to develop male structures. The testes develop and androgens (hormones which promote the development of male sexual organs and secondary sexual characteristics) are secreted. At about 16 weeks, an embryo with the SRY gene begins to produce immature sperm. In addition to stimulating male structures to grow, SRY suppresses the development of female structures by activating a gene on chromosome 19. This activation leads to the production of a protein called Mullerian- inhibiting substance, which destroys female structures early in their development. Lack of testis determining factor results in the development of female genital organs. Therefore, all embryos are female unless active testis determining factor makes them male.

Sex testing

The governing bodies of all-female sports sometimes use sex tests to make sure participants in their sports are female. The first attempts at gender verification were by the International Amateur Athletic Federation, whose sex test included parading naked female athletes before a panel of male doctors. In 1968 this rather dubious procedure was dropped, and the International Olympic Committee adopted the Barr test. This test uses the presence of stainable particles called Barr bodies as sex indicators. Barr bodies occur in epithelial cells in the mouth (buccal epithelial cells), and are thought to be derived from inactive X chromosomes. Females therefore usually have one Barr body in their buccal epithelial cells and males usually have none. At the 1992 Barcelona Olympics, the Barr test was replaced by the polymerase reaction test. In this test, the polymerase chain reaction. Sex testing is complicated by the fact that, on rare occasions, sex chromosomes fail to segregate at meiosis. This phenomenon, known as non-disjunction, can result in a sperm cell either having both an X and a Y chromosome or having no sex chromosome, and an egg cell either having two X chromosomes or having no sex chromosome. Non-disjunction can lead to unusual genotypes. Sex testing is confused even further by the occurrence of chimaeras. A chimaera is any animal or plant consisting of some cells with one genetic constitution and some with another. Very rarely, chimaera formation can occur during the early stages of embryonic development when chromosomes in mitotically dividing cells fail to segregate properly (for example, some cells can have the genotype XXX, others XO, while the majority are XX!).

Quick check:

1. Why are males called the heterogametic sex?

2. Explain why an embryo with an XY genotyper may develop female sexual organs.

3. Explain why a person may have buccal epithelial cells with two Barr bodies.

Discuss the role of the sex related Y gene in determining sex.

4. Describe how non-disjunction can affect the distribution of sex chromosomes in gametes and offspring.

5. Explain how sex is determined in humans.

6. Divide the text into an introduction, principal part and conclusion.

7. Express the main idea of each part.

8. Give a title to each paragraph of the text.

9. Summarize the text in brief.

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