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Tisha S.

Agustin 8-Mendel

Biotechnology 8

October 12, 2015

Chromosomes

What is a chromosome?
Chromosomes are thread-like structures located inside the nucleus of animal and plant
cells. Each chromosome is made of protein and a single molecule of deoxyribonucleic
acid (DNA). Passed from parents to offspring, DNA contains the specific instructions that
make each type of living creature unique.
The term chromosome comes from the Greek words for color (chroma) and body (soma).
Scientists gave this name to chromosomes because they are cell structures, or bodies,
that are strongly stained by some colorful dyes used in research.
What do chromosomes do?
The unique structure of chromosomes keeps DNA tightly wrapped around spool-like
proteins, called histones. Without such packaging, DNA molecules would be too long to
fit inside cells. For example, if all of the DNA molecules in a single human cell were
unwound from their histones and placed end-to-end, they would stretch 6 feet.
For an organism to grow and function properly, cells must constantly divide to produce
new cells to replace old, worn-out cells. During cell division, it is essential that DNA
remains intact and evenly distributed among cells. Chromosomes are a key part of the
process that ensures DNA is accurately copied and distributed in the vast majority of cell
divisions. Still, mistakes do occur on rare occasions.
Changes in the number or structure of chromosomes in new cells may lead to serious
problems. For example, in humans, one type of leukemia and some other cancers are
caused by defective chromosomes made up of joined pieces of broken chromosomes.
It is also crucial that reproductive cells, such as eggs and sperm, contain the right
number of chromosomes and that those chromosomes have the correct structure. If not,
the resulting offspring may fail to develop properly. For example, people with Down
syndrome have three copies of chromosome 21, instead of the two copies found in other
people.

Do all living things have the same types of chromosomes?


Chromosomes vary in number and shape among living things. Most bacteria have one or
two circular chromosomes. Humans, along with other animals and plants, have linear
chromosomes that are arranged in pairs within the nucleus of the cell.
The only human cells that do not contain pairs of chromosomes are reproductive cells, or
gametes, which carry just one copy of each chromosome. When two reproductive cells
unite, they become a single cell that contains two copies of each chromosome. This cell
then divides and its successors divide numerous times, eventually producing a mature
individual with a full set of paired chromosomes in virtually all of its cells.
Besides the linear chromosomes found in the nucleus, the cells of humans and other
complex organisms carry a much smaller type of chromosome similar to those seen in
bacteria. This circular chromosome is found in mitochondria, which are structures located
outside the nucleus that serve as the cell's powerhouses.
Scientists think that, in the past, mitochondria were free-living bacteria with the ability to
convert oxygen into energy. When these bacteria invaded cells lacking the power to tap
into oxygen's power, the cells retained them, and, over time, the bacteria evolved into
modern-day mitochondria.

What are centromeres?


The constricted region of linear chromosomes is known as the centromere. Although this
constriction is called the centromere, it usually is not located exactly in the center of the
chromosome and, in some cases, is located almost at the chromosome's end. The
regions on either side of the centromere are referred to as the chromosome's arms.
Centromeres help to keep chromosomes properly aligned during the complex process of
cell division. As chromosomes are copied in preparation for production of a new cell, the
centromere serves as an attachment site for the two halves of each replicated
chromosome, known as sister chromatids.
What are telomeres?

Telomeres are repetitive stretches of DNA located at the ends of linear chromosomes.
They protect the ends of chromosomes in a manner similar to the way the tips of
shoelaces keep them from unraveling.
In many types of cells, telomeres lose a bit of their DNA every time a cell divides.
Eventually, when all of the telomere DNA is gone, the cell cannot replicate and dies.
White blood cells and other cell types with the capacity to divide very frequently have a
special enzyme that prevents their chromosomes from losing their telomeres. Because
they retain their telomeres, such cells generally live longer than other cells.
Telomeres also play a role in cancer. The chromosomes of malignant cells usually do not
lose their telomeres, helping to fuel the uncontrolled growth that makes cancer so
devastating.
How many chromosomes do humans have?
Humans have 23 pairs of chromosomes, for a total of 46 chromosomes.
In fact, each species of plants and animals has a set number of chromosomes. A fruit fly,
for example, has four pairs of chromosomes, while a rice plant has 12 and a dog, 39.
How are chromosomes inherited?
In humans and most other complex organisms, one copy of each chromosome is
inherited from the female parent and the other from the male parent. This explains why
children inherit some of their traits from their mother and others from their father.
The pattern of inheritance is different for the small circular chromosome found in
mitochondria. Only egg cells - and not sperm cells - keep their mitochondria during
fertilization. So, mitochondrial DNA is always inherited from the female parent. In
humans, a few conditions, including some forms of hearing impairment and diabetes,
have been associated with DNA found in the mitochondria.
Do males have different chromosomes than females?
Yes, they differ in a pair of chromosomes known as the sex chromosomes. Females have
two X chromosomes in their cells, while males have one X and one Y chromosome.
Inheriting too many or not enough copies of sex chromosomes can lead to serious
problems. For example, females who have extra copies of the X chromosome are usually
taller than average and some have mental retardation. Males with more than one X
chromosome have Klinefelter syndrome, which is a condition characterized by tall stature
and, often, impaired fertility. Another syndrome caused by imbalance in the number of
sex chromosomes is Turner syndrome. Women with Turner have one X chromosome only.
They are very short, usually do not undergo puberty and some may have kidney or heart
problems.
How were chromosomes discovered?

Scientists looking at cells under the microscope first observed chromosomes in the late
1800s. However, at the time, the nature and function of these cell structures were
unclear.
Researchers gained a much better understanding of chromosomes in the early 1900s
through Thomas Hunt Morgan's pioneering studies. Morgan made the link between
chromosomes and inherited traits by demonstrating that the X chromosome is related to
gender and eye color in fruit flies.

What is a chromosome?
In the nucleus of each cell, the DNA molecule is packaged into thread-like structures
called chromosomes. Each chromosome is made up of DNA tightly coiled many times
around proteins called histones that support its structure.
Chromosomes are not visible in the cells nucleusnot even under a microscopewhen
the cell is not dividing. However, the DNA that makes up chromosomes becomes more
tightly packed during cell division and is then visible under a microscope. Most of what
researchers know about chromosomes was learned by observing chromosomes during
cell division.
Each chromosome has a constriction point called the centromere, which divides the
chromosome into two sections, or arms. The short arm of the chromosome is labeled
the p arm. The long arm of the chromosome is labeled the q arm. The location of the
centromere on each chromosome gives the chromosome its characteristic shape, and
can be used to help describe the location of specific genes.

DNA and histone proteins are packaged into structures called chromosomes.

Humans have 22 chromosome pairs and two sex chromosomes. Females have two X
chromosomes; males have an X chromosome and a Y chromosome.
Credit: U.S. National Library of Medicine
Chromosomes are thread-like molecules that carry hereditary information for everything
from height to eye color. They are made of protein and one molecule of DNA, which
contains an organisms genetic instructions, passed down from parents. In humans,
animals, and plants, most chromosomes are arranged in pairs within the nucleus of a
cell. Humans have 22 of these chromosome pairs, called autosomes.

How sex is determined


Humans have an additional pair of sex chromosomes for a total of 46 chromosomes. The
sex chromosomes are referred to as X and Y, and their combination determines a
persons sex. Human females have two XX chromosomes while males possess an XY
pairing. This XY sex-determination system is found in most mammals as well as some
reptiles and plants.
Whether a person has XX or XY chromosomes is determined when a sperm fertilizes an
egg. Unlike the bodys other cells, the cells in the egg and sperm called gametes or
sex cells possess only one chromosome. Gametes are produced by meiosis cell
division, which results in the divided cells having half the number of chromosomes as the
parent, or progenitor, cells. In the case of humans, this means that parent cells have two
chromosomes and gametes have one.
During fertilization, gametes from the sperm combine with gametes from the egg to form
a zygote. The zygote contains two sets of 23 chromosomes, for the required 46.
All of the gametes in the mothers eggs possess X chromosomes. The fathers sperm
contains about half X and half Y chromosomes. The sperm are the variable factor in
determining the sex of the baby. If the sperm carries an X chromosome, it will combine
with the eggs X chromosome to form a female zygote. If the sperm carries a Y
chromosome, it will result in a male.

The structure of X and Y chromosomes


While the chromosomes for other parts of the body are the same size and shape
forming an identical pairing the X and Y chromosomes have different structures.
The X chromosome is significantly longer than the Y chromosome and contains hundreds
more genes. Because the additional genes in the X chromosome have no counterpart in
the Y chromosome, the X genes are dominant. This means that almost any gene on the
X, even if it is recessive in the female, will be expressed in males. These are referred to
as X-linked genes. Genes found only on the Y chromosome are referred to as Y-linked
genes, and expressed only in males. Genes on either sex chromosome can be called sexlinked genes.
There are approximately 1,098 X-linked genes, though most of them are not for female
anatomical characteristics. In fact, many are linked to disorders such as hemophilia,
Duchenne muscular dystrophy, fragile-X syndrome, and more. They are responsible for
red-green color blindness, considered the most common genetic disorder and found most
often in males. The non-sex feature X-linked genes are also responsible for male pattern
baldness.

In contrast to the large X chromosome, the Y chromosome contains only 26 genes.


Sixteen of these genes are responsible for cell maintenance. Nine are involved in sperm
production, and if some are missing or defective it can cause low sperm counts or
infertility. One gene, called the SRY gene, is responsible for male sexual traits. The SRY
gene triggers the activation and regulation of another gene, found on a non-sex
chromosome, called the Sox9. The Sox9 triggers the development of non-sexed gonads
into testes instead of ovaries.
Sex chromosome abnormalities
Abnormalities in the sex chromosome combination can result in a variety of genderspecific conditions that are rarely lethal.
Female abnormalities result in Turner syndrome or Trisomy X. Turner syndrome occurs
when females have only one X chromosome instead of two. Symptoms include failure of
the sex organs to normally mature leading to infertility, small breasts, and no
menstruation; short stature; a wide, shield-shaped chest; and a wide, webbed neck.
Trisomy X syndrome is caused by three X chromosomes instead of two. Symptoms
include tall stature, speech delays, premature ovarian failure or ovarian abnormalities,
and weak muscle tonealthough many girls and women exhibit no symptoms.
Males can be affected by Klinefelter syndrome. Symptoms include breast development,
abnormal proportions such as large hips, tall height, infertility, and small testicles.

DNA vs. RNA


DNA, or deoxyribonucleic acid, is like a blueprint of biological guidelines that a living
organism must follow to exist and remain functional. RNA, or ribonucleic acid, helps
carry out this blueprint's guidelines. Of the two, RNA is more versatile than DNA,
capable of performing numerous, diverse tasks in an organism, but DNA is more
stable and holds more complex information for longer periods of time.
Comparison chart

Stands
For
Definition

DNA
DeoxyriboNucleicAcid.

RNA
RiboNucleicAcid.

A nucleic acid that contains the


genetic instructions used in the
development and functioning of all
modern living organisms. DNA's
genes are expressed, or
manifested, through the proteins

The information found in


DNA determines which traits
are to be created, activated,
or deactivated, while the
various forms of RNA do the
work.

Function

that its nucleotides produce with


the help of RNA.
The blueprint of biological
guidelines that a living organism
must follow to exist and remain
functional. Medium of long-term,
stable storage and transmission of
genetic information.
Double-stranded. It has two
nucleotide strands which consist of
its phosphate group, five-carbon
sugar (the stable 2-deoxyribose),
and four nitrogen-containing
nucleobases: adenine, thymine,
cytosine, and guanine.

Helps carry out DNA's


blueprint guidelines.
Transfers genetic code
needed for the creation of
proteins from the nucleus to
the ribosome.
Structure
Single-stranded. Like DNA,
RNA is composed of its
phosphate group, fivecarbon sugar (the less stable
ribose), and four nitrogencontaining nucleobases:
adenine, uracil (not
thymine), guanine, and
cytosine.
Base
Adenine links to thymine (A-T) and
Adenine links to uracil (A-U)
Pairing
cytosine links to guanine (C-G).
and cytosine links to guanine
(C-G).
Location DNA is found in the nucleus of a cell
Depending on the type of
and in mitochondria.
RNA, this molecule is found
in a cell's nucleus, its
cytoplasm, and its ribosome.
Stability
Deoxyribose sugar in DNA is less
Ribose sugar is more
reactive because of C-H bonds.
reactive because of C-OH
Stable in alkaline conditions. DNA
(hydroxyl) bonds. Not stable
has smaller grooves, which makes
in alkaline conditions. RNA
it harder for enzymes to "attack."
has larger grooves, which
makes it easier to be
"attacked" by enzymes.
Propagati
DNA is self-replicating.
RNA is synthesized from DNA
on
when needed.
Unique
The helix geometry of DNA is of B- The helix geometry of RNA is
Features
Form. DNA is protected in the
of A-Form. RNA strands are
nucleus, as it is tightly packed. DNA
continually made, broken
can be damaged by exposure to
down and reused. RNA is
ultra-violet rays.
more resistant to damage by
Ultra-violet rays.

DNA and RNA are nucleic acids. Nucleic acids are long
biological macromolecules that consist of smaller molecules called nucleotides. In

DNA and RNA, these nucleotides contain four nucleobases sometimes called
nitrogenous bases or simply bases twopurine and pyrimidine bases each.

Structural differences between DNA and RNA.


DNA is found in the nucleus of a cell (nuclear DNA) and in mitochondria
(mitochondrial DNA). It has two nucleotide strands which consist of its phosphate
group, five-carbon sugar (the stable 2-deoxyribose), and four nitrogen-containing
nucleobases: adenine, thymine, cytosine, and guanine.
During transcription, RNA, a single-stranded, linear molecule, is formed. It is
complementary to DNA, helping to carry out the tasks that DNA lists for it to do. Like
DNA, RNA is composed of its phosphate group, five-carbon sugar (the less
stableribose), and four nitrogen-containing nucleobases: adenine, uracil
(not thymine), guanine, and cytosine.

RNA folding in on itself into a hairpin loop.


In both molecules, the nucleobases are attached to their sugar-phosphate backbone.
Each nucleobase on a nucleotide strand of DNA attaches to its partner nucleobase on
a second strand: adenine links to thymine, and cytosine links to guanine. This linking
causes DNA's two strands to twist and wind around each other, forming a variety of
shapes, such as the famous double helix (DNA's "relaxed" form),circles,
and supercoils.
In RNA, adenine and uracil (not thymine) link together, while cytosine still links to
guanine. As a single stranded molecule, RNA folds in on itself to link up its
nucleobases, though not all become partnered. These subsequent three-dimensional
shapes, the most common of which is the hairpin loop, help determine what role the
RNA molecule is to play as messenger RNA (mRNA), transfer RNA (tRNA), or
ribosomal RNA (rRNA).
Function
DNA provides living organisms with guidelinesgenetic information
in chromosomalDNAthat help determine the nature of an organism's biology, how it
will look and function, based on information passed down from former generations
throughreproduction. The slow, steady changes found in DNA over time, known as
mutations, which can be destructive, neutral, or beneficial to an organism, are at the
core of the theory of evolution.

Genes are found in small segments of long DNA strands; humans have around
19,000 genes. The detailed instructions found in genesdetermined by how
nucleobases in DNA are orderedare responsible for both the big and small
differences between different living organisms and even among similar living
organisms. The genetic information in DNA is what makes plants look like
plants, dogs look like dogs, andhumans look like humans; it is also what prevents
different species from producing offspring (their DNA will not match up to form new,
healthy life). Genetic DNA is what causes some people to have curly, black hair and
others to have straight, blond hair, and what makes identical twins look so similar.
(See also Genotype vs Phenotype.)
RNA has several different functions that, though all interconnected, vary slightly
depending on the type. There are three main types of RNA:

Messenger RNA (mRNA) transcribes genetic information from the DNA found
in a cell's nucleus, and then carries this information to the
cell's cytoplasm andribosome.

Transfer RNA (tRNA) is found in a cell's cytoplasm and is closely related to


mRNA as its helper. tRNA literally transfers amino acids, the core components of
proteins, to the mRNA in a ribosome.

Ribosomal RNA (rRNA) is found in a cell's cytoplasm. In the ribosome, it takes


mRNA and tRNA and translates the information they provide. From this information, it
"learns" whether it should create, or synthesize, a polypeptide or protein.
DNA's genes are expressed, or manifested, through the proteins that its nucleotides
produce with the help of RNA. Traits (phenotypes) come from which proteins are
made and which are switched on or off. The information found in DNA determines
which traits are to be created, activated, or deactivated, while the various forms of
RNA do the work.
One hypothesis suggests that RNA existed before DNA and that DNA was a mutation
of RNA. The video below discusses this hypothesis in greater depth.

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