Voice of the Genome

TOPIC 3

Topic Overview
Gamete structure and function Fertilisation Mitosis/meiosis Cell cycle Stem cells Gene expression Specialised cells (working together) Environmental/genetic factors

Prokaryotic cells (before the nucleus)

Small

DNA not associated with any proteins and lies free in the cytoplasm Bacteria and cyanobacteria Cell wall

Eukaryotic cells (true nucleus)

Cells containing membrane-bound organelles such as nuclei and mitochondria Plant and animal cells Doesnt necessarily have a cell wall

Larger

Movement in cells
Continual movement of molecules in cells RNA nucleus > ribosomes (protein synthesis) Enzymes, hormones, signal proteins released from cell Movement of proteins requires ER, Golgi apparatus and vesicles Rough ER has attatched ribosomes. Ribosomes make proteins and ER transports them Transport vesicles move molecules between locations inside the cell

Ovum adaptations
Large cytoplasm has room for a large protein and lipid food store Incapable of independent movement - wafted
along oviduct from ovary to uterus by ciliated cells and muscle contractions

Surrounded by jelly-like zona pellucida digested

by sperm during fertilisation. Layer thickens after the first sperm has fused with membrane, preventing entry to any further sperm.

Releases chemicals to attract sperm Haploid nucleus contains only half of the genetic material
required for humans, 23 single chromosomes, as when the nuclei fuse there will be a full set of DNA

Sperm adaptations
Flagellum motile. powered by energy released by mitochondria Smaller, streamlined - less energy required for movement Digestive enzymes in acrosome breaks down zona
pellucida

Haploid nucleus half of genetic information

Fertilisation in humans
1. Sperm reach the ovum 2. Chemicals released from cells surrounding ovum triggering acrosome reaction 3. Acrosome swells, fusing with sperm cell surface membrane 4. Digestive enzymes in acrosome released 5. Enzymes digest through follicle cells 6. ...and through the zona pellicida 7. Sperm fuses with ovum membrane 8. Sperm nucleus enters ovum 9. Lysosomes release enzymes > thicken zona pellucida 10. Nuclei of ovum and sperm fuse

Fertilisation in flowering plants

1. Pollen grain germinates on the style 2. Pollen tube grows down through style towards ovary 3. Generative nucleus in pollen grain splits to form 2 haploid gamete nuclei which move down the tube 4. Tube grows down into embryo sac 5. 2 male gamete nuclei enter the sac 6. One fuses with the egg cell and forms a diploid zygote 7. Other fuses with 2 nuclei in embryo sac to form a triploid cell, which becomes the seeds storage tissue endosperm

Mitosis
Growth and repair Genetic consistency Asexual reproduction

Meiosis
Gametes - half the number of chromosomes

The cell cycle

Interphase
Preparation for cell division Consists of g1, s, and g2 Formation of new organelles DNA synthesis (S) Individual chromosomes unravelled, allowing access to genetic material for new proteins to be synthesised Copies DNA for new cells

Prophase
Chromosomes condense become thicker and shorter Each chromosome visible as 2 identical strands chromatids joined at one region, the centromere Microtubules form spindle Centrioles position at opposite sides of cell Form 2 poles of spindle Spindle fibres form between poles

Metaphase
Starts when nuclear envelope breaks down Chromosomes centromeres attach to spindle fibres at equator

Anaphase
Centromeres split Spindle fibres shorten Pulls 2 halves of centromere in opposite directions 1 chromatid pulled to each pole Ends when spindle fibres break down

Telophase
Reverse of prophase Chromosomes unravel and nuclear envelope reforms 2 sets of genetic info enclosed in seperate nuclei

Cytoplasmic Division
Final reorganisation into 2 new cells Membrane constricts around centre of cell (animal cells) Plant cells make a new cell plate between the two cells

Interphase Prophase Metaphase Anaphase Telophase Cytoplasmic division

I Peed Myself And Told Chris

How is genetic variation generated?

Crossing over
During first meiotic division Where chromatids come into contact, sections break and rejoin, swapping sections of DNA Point where chromatids break = CHIASMA

Independent assortment
- random chromosome from each pair ends up in gamete - millions of combinations

Types of stem cell

Totipotent can develop into a complete human
being
- zygote with 8 cells after 3 complete cell cycles - most PLANT cells remain totipotent

Pluripotent can develop into most cell types

- inner cell mass of 50 cells of the blastocyst (hollow ball of cells formed 5 days after conception)

Multipotent adult cells which can give rise to a

variety of cell types

Use of stem cells in medicine

spare embryos from IVF used for research pluripotent stem cells Could be used in transplants Rejection tissue typing (different types for different groups) - drugs - therapeutic cloning. Diploid cell removed > nucleus fused with an ovum with the nucleus removed >stimulated to divide via mitosis > after 5 days > blastocyst > stem cells removed

Ethical concerns
No objection to using multipotent stem cells from adult bone marrow less valuable for research than pluripotent (can only come from human embryo) Unethical embryo should be accorded full human status from the moment of creation Weigh up advantages/disadvantages HFEA permits what is/isnt allowed

Gene expression
cells contain all the DNA, however only some genes are switched on to produce mRNA to be translated into proteins Regulator proteins prevent transcription switches off a gene

Fibrodysplasia Ossificians Progressiva (FOP)

Growth of bone in wrong places Inherited, caused by gene mutation genes not switched off in wbcs genes are expressed that produce proteins for a bone cell, forming bone in tissues and muscle cells Surgery damages tissue makes condition worse

Cells > tissues

Tissue a group of specialized cells working together to carry out one function. Adhesion molecules on cell surface membranes recognise like cells and stick to them, forming clusters Organ group of tissues, one function Organ system group of organs, one function

ABC of flowering plants

SEPAL A PETAL A & B STAMEN B & C CARPEL - C

Apatosis
Programmed cell death All mammalian cells are able to self destruct

Gene and environment interactions

Discontinuous variation only controlled by genes Continuous variation affected by both genes and environment

Polygenic inheritance controlled by many genes as well as the environment

Height continuous/ polygenic

Environmental Better health and nutrition End of child labour = more energy for growth Better clothing and heating = more energy for growth Genetic Evidence that taller men have more children Movements of people -> less inbreeding

Hair colour largely genetically determined

UV light causes chemical and physical damage to melanin and other proteins in hair cells Destruction of melanin in hair cells results in hair lightening

White with dark tips = mutant tyrosinase allele

MAOA - continuous
Low levels of MAOA = more violent behaviour Childhood maltreatment found to be linked with antisocial behaviour as adults. However, mistreated children with high MAOA were less likely to show violent behaviour than those with low levels.

Cancer Environmental
Caused by damage to DNA UV light, metabolism, abestos, carcinogens etc Oncogenes - Cancer cells dont respond to stop signals so multiply excessively and are continually active

Tumour supressor genes- cell cannot stop entry into S phase

Cancer inherited
Trends show cancer often runs in families Gene defects have been identified which predispose people to bowel, ovarian, prostate, retinal cancer and some types of leukaemia

Inherited cancer is rare