3

The voice of the genome

A* Extension 3.4: The different roles of proteins in the nucleus

The chromosomes of eukaryotic cells are composed of DNA (27%), protein (67%) and a small amount of RNA (6%). Thus there is about twice as much protein in a chromosome as DNA. 1 Half the protein present is histone a protein with a high concentration of amino acid residues with additional basic groups. Histone binds strongly to DNA, taking the form of the beaded subunits on the DNA chain called nucleosomes. 2 Non-histone protein contains more of the acidic amino acid residues (those with additional COOH groups) than histone does. Many of these proteins are the enzymes that catalyse the transcription and replication of the nucleic acid, including the polymerase enzymes. The remainder of non-histone protein makes up the scaffold to the chromosome structure (which comprises DNA plus histones).

A* Extension 3.5: Programmed cell death

In healthy organisms, cells eventually die by programmed cell death (PCD), a process controlled by specic genes. It is a key part of tissue and organ development. During growth of the fetus in the uterus, and throughout later life, PCD removes all superuous, infected or damaged cells. It is capable of preventing cancer, too. Cells in a tissue rely on signals from neighbouring cells and from their immediate environment. If any cell moves out of its normal position or role, an auto-destruct programme is activated and the cell commits suicide. Most cells have a death receptor on their surface that triggers the internal death procedure, once it is activated. Activation sets off a cascade of protein interactions. Powerful hydrolytic enzymes fragment the proteins and enzymes of normal cell metabolism, along with cell organelles and the DNA of the nucleus. Fragments are engulfed by macrophage cells and further broken down. Infected cells carry on their plasma membrane a protein (an antigen) from the infecting parasite, such as part of the protein coat of an infecting virus, for example. In effect, the cell advertises its problem. Then killer cells (one type of white cells in the blood and tissue uid) bind to the infected cell and trigger PCD.

A* Extension 3.6: Eukaryotic flagella and the structure of the sperm tail
Cilia and agella are organelles that project from the surface of certain cells. Cilia occur in large numbers on certain large cells, such as the ciliated lining (epithelium) of the air tubes serving the lungs (bronchi). Flagella occur singly, typically on small, motile cells for example, motile sex cells such as a sperm (see illustration on the next page). Sometimes they occur in pairs. Structurally, cilia and agella are almost identical, and both can move. Their movement may cause a motile cell to move (e.g. sperm), or may cause the movement of uid across the cell surface (e.g. mucus along the bronchial lining). In a unicellular animal such as the protozoan Paramecium, cilia generate a special feeding current. Internally, cilia and agella consist of nine pairs of microtubules arranged in an outer ring, surrounded by a single central pair, all enclosed in an extension of the plasma membrane. These microtubules are connected to a basal body, just below the body surface. All along the microtubules are side-arms, also made of protein. These side structures contain enzymes that release energy from ATP, the energy currency of cells, and they appear to work in a similar way to the sliding lament mechanism between actin and myosin in our muscle myobrils.

Edexcel Biology for AS Dynamic Learning CD-ROM

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THE VOICE OF THE GENOME A* EXTENSIONS

movement of fluid 1 5 ciliated epithelium cell 2 3 4 basal body 1 3 = power stroke 4 5 = recovery movement of sperm thrust of flagellum

Protein side-arms to the microtubules react with ATP and bring about sliding movements of the microtubules that cause the movements of the cilium or flagellum.

flagellum of sperm

TEM of cilium in TS (1000)

outer ring of nine pairs of microtubules central pair of microtubules plasma membrane

basal body cilium in LS

Now look at the structure of the sperm (Figure 3.24, page 120 in the students book). The tail region has the basic structure of a agellum. Behind the head, the midpiece is packed with mitochondria. This is where the ATP is generated that is needed to fuel the swimming movements of the tail.

A* Extension 3.7: Double fertilisation in plants

As the pollen tube penetrates the embryo sac within the ovule, it simultaneously delivers two male nuclei. Whilst one fuses with the egg cell to form the zygote, the other fuses with the endosperm nucleus, situated in the middle of the embryo sac. Double fertilisation has occurred. What is the signicance of this unique form of fertilisation? The zygote then undergoes mitotic division and a mass of cells is formed. These become organised into the embryonic plant embryonic stem (plumule), embryonic root (radicle) and embryonic leaf or leaves (cotyledons). At the same time, the plant deposits a very substantial food store in or around the embryo, which becomes available for the later use of the new plant, at the time of its germination. This food reserve develops from tissue formed by cell division of the fertilised endosperm nucleus. Incidentally, the food store is why most fruits and seeds make such nutritious food for us (and for any wildlife organism that favours them in its diet). Since the plant invests heavily in each seed, it is advantageous to make that investment only in seeds containing an embryonic plant, capable of germinating into a new individual. Since, only in the event of double fertilisation is a food store for the seed laid down, the plant is prevented from producing sterile seeds loaded with stored food. Thus the unique double fertilisation of owering plants has a useful consequence for the plant.

Edexcel Biology for AS Dynamic Learning CD-ROM

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THE VOICE OF THE GENOME A* EXTENSIONS

A* Extension 3.8: The endometrium venue for implantation

In the female, the secretion of sex hormones is cyclical, rather than occuring at a steady rate. In fact there are two cycles of change at work, one in the ovaries and one in the uterus lining. Together these sets of change make up the menstrual cycle. Menstrual means monthly, and the cycle takes 28 days. In the human female, a single egg is normally produced and discharged from one of the two ovaries each month (ovulation). The uterus has a thick muscular wall, together with an inner lining of mucous membrane richly supplied with arterioles. This lining, called the endometrium, also undergoes regular change. The lining builds up each month in preparation for implantation and early nutrition of a developing embryo, should fertilisation of an oocyte occur. Build-up involves proliferation of the cells of the endometrium, the formation of tubular glands, and a greatly extended system of blood vessels. Secretions of the tubular glands contain glycogen and mucus, and the enriched blood supply ensures the near by presence of all the nutrients the plasma supplies. The endometrium is now in a receptive state if implantation of a young embryo occurs. If implantation does not occur, the endometrium disintegrates and menstruation starts. By convention, the rst day of this cycle is taken as the rst day of menstruation (bleeding) the shedding of the endometrial lining of the uterus.
egg cell in follicle growing ovarian cycle ovulation (no fertilisation) corpus luteum degenerates

endometrium of uterus breaks down at menstruation

blood vessels

endometrium grows uterine cycle

10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 time (days)

A* Extension 3.9: Stem cells from testicles a recent development

Generally, it is a major problem to isolate the small pool of stem cells that exist in the organs of adult organisms. They are also generally less exible than embryonic stem cells in terms of the ability to develop into different types of adult cell. Now a way of identifying the tiny amounts of stem cells that exist in the testes has been devised, using mice in the rst instance. The method is based on the discovery of a distinctive genetic marker present in these cells alone, allowing some to be identied and harvested from testicles. Subsequently, they have been propagated in the lab. Once these stem cells were reintroduced into mice, researchers were able to induce the cells to become built up into blood

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THE VOICE OF THE GENOME A* EXTENSIONS vessels. They have also been transformed into brain, heart and muscle cells of mice, but only in in vitro experiments, so far. The next step is for the researchers to repeat these processes in humans. If this can be done, then an ethically acceptable source of stem cells may be available for the treatment of diseases such as Parkinsons, Alzheimers, strokes and diabetes, perhaps. This work was rst reported in Nature in September, 2007.

A* Extension 3.10: Why are males vulnerable to abnormal MAO A activity?

Sex is determined by specic chromosomes, known as the sex chromosomes. Humans have one pair of sex chromosomes either XX ( ) or XY ( ). Furthermore, the bulk of each sex chromosome contains genes that have no corresponding allele on the other type of sex chromosome. This means that alleles on the female X chromosomes are paired (she has XX), whereas in a male, they are unpaired (because he has XY). We have learned that the gene for MAO A activity occurs on the X chromosome, and that mutations occur in this gene that may trigger abnormal MAO A activity. This mutation produces a recessive allele it is expressed in a female only if she is homozygous for the mutation, which is an extremely unlikely occurrence. However, in the male, since there is a single X chromosome, possession of a single recessive mutant allele for abnormal MAO A activity may be expressed. Consequently, males are far more likely to have the misfortune to develop abnormal MAO A activity than females.

Edexcel Biology for AS Dynamic Learning CD-ROM

Hodder Education 2008