The Human genome

An organism's genome is its entire DNA (deoxyribonucleic acid). We think of genes when we hear the
word genome, but only a tiny fraction of our DNA (about 2 per cent) codes for genes. We're not sure exactly
what the rest of the DNA does, but it's likely to be involved in regulating the translation of genes into proteins.
The human genome project sequenced the DNA in our chromosomes but we also have DNA in the
mitochondria of our cells, where energy is released from food. The human mitochondrial genome was
sequenced in 1981.
Chromosomes are long chains of DNA found in the nucleus of cells. Humans have 46 chromosomes - 22
pairs of non-sex chromosomes and X and Y chromosomes. Our closest genetic neighbours, chimpanzees and
gorillas, have 48 chromosomes, a common garden snail has 54 chromosomes and the majestic elephant has 56
chromosomes.
DNA and RNA (ribonucleic acid) are made up of chains of nucleotides. The human genome contains 3.2
billion chemical nucleotide base pairs. In DNA, adenine teams up with thymine, and cytosine teams up with
guanine. The order of these sequences determines what type of organism they make up, and which sequences
are used determines what a cell does. In RNA, adenine matches up with uracil, which occurs instead of
thymine.
A gene is a stretch of DNA that acts as a set of instructions for assembling RNA and usually a protein.
Each gene encodes a different protein. RNA is used to copy the genetic code, usually so a protein can be made
to match it. Some proteins are structural, forming the matrix of the cell, but many proteins are enzymes - they
make reactions happen in the cell that wouldn't normally go ahead at a fast enough speed for us.
Scientists currently think humans have between 20 - 25,000 protein-encoding genes, although no one is really
sure. It was once thought that the human genome contained somewhere between 40,000to 140,000 genes.
Since the human genome has been unraveled it is now known that, unlike many other animals, our genes are
not uniformly spread across the genome, rather it has gene-rich and gene-poor areas.
Gene expression is the process of assembling a final product (usually a protein) from the instructions encoded
in a gene. The process starts in the cell nucleus, where the gene is 'read' by the enzyme DNA polymerase. This
enzyme assembles an RNA molecule that exactly matches the gene's DNA, so the gene's code has been
copied. The RNA moves into the cell's cytoplasm where amino acids that correspond to the RNA's code are
assembled into a protein - the exact protein that the gene coded for.
X and Y chromosomes determine sex in humans. Two X chromosomes makes you female, while men
have an X and a Y. The Y chromosome has just 344 genes - the fewest genes of all human chromosomes. A
single gene on the Y chromosome (SRY) is responsible for development of a male foetus, including
development of the testis. Haemophilia is a recessive trait resulting from faulty genes on the X chromosome.
Males only have one X chromosome, so one faulty gene is enough to result in the condition. Women have two
X chromosomes so would have to inherit faulty genes from both parents to develop haemophilia. Male
pattern baldness is in part linked to sex hormone receptors, coded for on the X chromosome. Testosterone is a
steroidal hormone manufactured in the body from cholesterol. It's not coded for by a gene.
Gene mutations are mistakes in the DNA structure. Mutations can affect entire chromosomes, genes,
or just single nucleotides. They can be inherited or acquired throughout a person's lifetime through things
such as exposure to environmental factors such as radiation. Inherited mutations are twice as likely to happen
in sperm cells than in egg cells. Researchers are not sure why but one theory is that more cell division is
required to create sperm cells than egg cells, which increases the chance of mutation. Mutations can cause
anything from rare diseases to variations in eye colour or resistance and susceptibility to disease. If these
variations are passed down through subsequent generations and become common in a population, they are
called polymorphisms. For example, 45 per cent of variations in height are thought to be caused by single-
nucleotide polymorphisms - SNPs or snips in genetics lingo.
Very few features or diseases are determined or controlled by a single gene. Cystic fibrosis, however,
results from mutations in one gene (the CFTR gene) on chromosome 7. CFTR codes for a channel that
regulates the flow of ions in and out of cells. Mutations in the gene mean that the channel can't work
properly, resulting in overly sticky mucus in the respiratory tract and digestive system. Height is about 80 per
cent down to genes, and while some genes increase risk of some types of breast cancer, other cancers don't
have a link to a specific gene. Complex characteristics like mathematical ability probably involve both genes
and environmental influences.
When a chromosome in an egg or sperm cell (gamete) does not divide properly in a process called
meiosis, the foetus inherits three chromosomes instead of two. This is known as trisomy and can happen on
any of the chromosome pairs. The best-known trisomy condition, Down syndrome, is caused by a third
chromosome on the 21st pair. An additional chromosome on the 18th pair is known as Edwards syndrome
(Trisomy 18), Patua syndrome is Trisomy 13, and Warkany syndrome 2 is Trisomy 9. The most common
trisomy happens on the 16th pair and occurs in about one per cent of all pregnancies, often resulting in
miscarriage.

Human genome quiz

1. The human genome is:

a) All of our genes b) All of our DNA c) All of the DNA and RNA in our cells d) Responsible for all our physical
characteristics
2. How many chromosomes do humans have? a) 46 b) 48 c) 54 d) 56
3. DNA and RNA are each made up of four chemical bases joined to a sugar and phosphate, called nucleotides,
that match up with each other. In DNA, the adenine base forms special bonds to make a base pair with:
a) Guanine b) Cytosine c) Thymine d) Uracil
4. Genes are made up of: a) DNA b) RNA c) Proteins d) Enzymes
5. Scientists now think humans have how many protein-encoding genes:
a) 20 - 25,000 b) 30 - 40,000 c) 65 - 75,000
d) more than 100,000
6. When a gene is 'expressed' it is: a) Transported around the body to make proteins b) Used as a blueprint to
assemble the protein it codes for c) Passed on from parents to children d) Replicated within the cell
7. Genes for which of the following are coded on the Y chromosome:
a) Haemophilia b) Testosterone c) Male pattern baldness d) Testis development
8. Gene mutations happen: a) Twice as often in egg cells than sperm cells b) Twice as often in sperm cells than
egg cells c) At the same rate in both types of cells d) The sex germ cells are not related to mutation
9. Which of the following is controlled by a single gene:
a) Height b) Mathematical ability c) Breast cancer d) Cystic fibrosis
10. Trisomy 21 is better known as:
a) Edwards syndrome b) Patua syndrome c) Down syndrome d) Warkany syndrome 2
AMERICAN CORNER, CONSTANTA

A Brief Introduction into The Mystery of DNA

If you have ever wondered why you have brown skin or curly hair you have only to look to your biological parents
for answers. When you were conceived, cells from the male and female united to form a new organism. Within each
of those cells are thin threads called chromosomes which are made up of DNA (deoxyribonucleic acid).
Part of these cells are genes. It is the genes which tell your body how to develop. Genes carry coded information
about the characteristics of the parents, like the size and shape of the nose, or whether a person is right or left-
handed. Although genes had been identified as early as the 1800s by Austrian monk Gregor Mendel, it was not
known what the genes were composed of or how they worked. It was not until 1944 that scientists discovered that
the DNA contained in the chromosomes carried the genetic message. During the 1950s a team of scientists, Watson
and Crick, was able to build a model of the DNA molecule. Each molecule consists of millions of atoms arranged in
a double helix (spiral shape) held together by cross pieces.
The order in which the atoms are arranged determines the code of genetic information which is then passed on to the
next generation. Today, scientists have developed a technique called genetic fingerprinting, which can be used to
track criminals and study diseases. Also in the experimental stages is genetic engineering which will offer a method
for altering the genes and thus changing the characteristics of an organism.

The Human Genome

(Answers to the quiz)

1. The human genome is: Answer: B All of our DNA

2. How many chromosomes do humans have? Answer: A 46
3. DNA and RNA are made up of four chemical bases joined to a sugar and phosphate, called nucleotides, that match up
with each other. In DNA, the adenine base forms special bonds to make a base pair with: Answer: C Thymine
4. Genes are made up of: Answer: A DNA
5. Scientists now think humans have how many protein-encoding genes: Answer: A 20 - 25,000
6. When a gene is 'expressed' it is: Answer: B Used as a blueprint to assemble the protein it codes for.
7. Genes for which of the following are coded on the Y chromosome: Answer: D Testis development
8. Gene mutations happen: Answer: B Twice as often in sperm cells than egg cells
9. Which of the following is controlled by a single gene? Answer: D Cystic fibrosis
10. Trisomy 21 is better known as: Answer: C Down syndrome

(Source: http://www.abc.net.au/science/games/quizzes/2010/humangenome/)