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 cell’s nucleus—not even under a microscope—when 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.

What is DNA
Deoxyribonucleic acid (DNA) is a nucleic acid that contains the genetic instructions used in the
development and functioning of all known living organisms and some viruses. The main role of
DNA molecules is the long-term storage of information. DNA is often compared to a set of
blueprints or a recipe, since it contains the instructions needed to construct other components of
cells, such as proteins and RNA molecules. The DNA segments that carry this genetic
information are called genes, but other DNA sequences have structural purposes, or are involved
in regulating the use of this genetic information.

Chemically, DNA is a long polymer of simple units called nucleotides, with a backbone made of
sugars and phosphate groups joined by ester bonds. Attached to each sugar is one of four types of
molecules called bases. It is the sequence of these four bases along the backbone that encodes
information. This information is read using the genetic code, which specifies the sequence of the
amino acids within proteins. The code is read by copying stretches of DNA into the related
nucleic acid RNA, in a process called transcription.
Within cells, DNA is organized into structures called chromosomes. These chromosomes are
duplicated before cells divide, in a process called DNA replication. Eukaryotic organisms
(animals, plants, and fungi) store their DNA inside the cell nucleus, while in prokaryotes
(bacteria and archae) it is found in the cell's cytoplasm. Within the chromosomes, chromatin
proteins such as histones compact and organize DNA. These compact structures guide the
interactions between DNA and other proteins, helping control which parts of the DNA are
transcribed.

What is Genes
Other than carrying information to offspring, the function of a gene is to "direct" the manufacture
of a specific protein. Each gene carries the information for making 1 specific kind of protein.
It is the proteins that determine the characteristics and functioning (everything that goes on) of
every living cell, and therefore, everything about the human body.
These proteins are being destroyed continuously by all kinds of factors, and so must replaced
continuously. Also certain proteins are only made at certain times, and not at other times. So
various genes are turned on and turned off at different times.
Most of the 25,000 or so genes in every cell of your body are functioning most of the time to
make these critical molecules - the proteins.
The genes get duplicated and distributed into 2 new cells when a cell divides; and when those
cells are reproductive cells (eggs and sperm), then some of those genes may get passed along to
new individuals.

Chromosome Map
 Our genetic information is stored in 23 pairs of
chromosomes that vary widely in size and shape. Chromosome 1 is the largest and is over three
times bigger than chromosome 22. The 23rd pair of chromosomes are two special chromosomes,
X and Y, that determine our sex. Females have a pair of X chromosomes (46, XX), whereas
males have one X and one Y chromosomes (46, XY). Chromosomes are made of DNA, and
genes are special units of chromosomal DNA. Each chromosome is a very long molecule, so it
needs to be wrapped tightly around proteins for efficient packaging.
Near the center of each chromosome is its centromere, a narrow region that divides the
chromosome into a long arm (q) and a short arm (p). We can further divide the chromosomes
using special stains that produce stripes known as a banding pattern. Each chromosome has a
distinct banding pattern, and each band is numbered to help identify a particular region of a
chromosome. This method of mapping a gene to a particular band of the chromosome is called
cytogenetic mapping. For example, the hemoglobin beta gene (HBB) is found on chromosome
11p15.4. This means that the HBB gene lies on the short arm (p) of chromosome 11 and is found
at the band labeled 15.4.
With the advent of new techniques in DNA analysis, we are able to look at the chromosome in
much greater detail. Whereas cytogenetic mapping gives a bird's eye view of the chromosome,
more modern methods show DNA at a much higher resolution. The Human Genome Project
aims to identify and sequence the ~30,000 genes in human DNA.
 Chromosome 1
• Contains over 3000 genes
• Contains over 240 million base pairs, of which ~90% have been determined
• See the diseases associated with chromosome 1 in the MapViewer.
Chromosome 2
• Contains over 2500 genes
• Contains over 240 million base pairs, of which ~95% have been determined
• See the diseases associated with chromosome 2 in the MapViewer.
 Chromosome 3
• Contains approximately 1900 genes
• Contains approximately 200 million base pairs, of which ~95% have been determined
• See the diseases associated with chromosome 3 in the MapViewer.
Chromosome 4
• Contains approximately 1600 genes
• Contains approximately 190 million base pairs, of which ~95% have been determined
• See the diseases associated with chromosome 4 in the MapViewer
 Chromosome 5
• Contains approximately 1700 genes
• Contains approximately 180 million base pairs, of which over 95% have been determined
• See the diseases associated with chromosome 5 in the MapViewer.
Chromosome 6
• Contains approximately 1900 genes
• Contains approximately 170 million base pairs, of which over 95% have been determined
• See the diseases associated with chromosome 6 in the MapViewer.
 Chromosome 7
• Contains approximately 1800 genes
• Contains over 150 million base pairs, of which over 95% have been determined
• See the diseases associated with chromosome 7 in the MapViewer.
Chromosome 8
• Contains over 1400 genes
• Contains over 140 million base pairs, of which over 95% have been determined
• See the diseases associated with chromosome 8 in the MapViewer.

Chromosome 9
• Contains over 1400 genes
• Contains over 130 million base pairs, of which over 85% have been determined
• See the diseases associated with chromosome 9 in the MapViewer.
Chromosome 10
• Contains over 1400 genes
• Contains over 130 million base pairs, of which over 95% have been determined
• See the diseases associated with chromosome 10 in the MapViewer.
 Chromosome 11
• Contains approximately 2000 genes
• Contains over 130 million base pairs, of which over 95% have been determined
• See the diseases associated with chromosome 11 in the MapViewer.

Chromosome 12
• Contains over 1600 genes
• Contains over 130 million base pairs, of which over 95% have been determined
• See the diseases associated with chromosome 12 in the MapViewer.

Chromosome 13
• Contains approximately 800 genes
• Contains over 110 million base pairs, of which over 80% have been determined
• See the diseases associated with chromosome 13 in the MapViewer.
Chromosome 14
• Contains approximately 1200 genes
• Contains over 100 million base pairs, of which over 80% have been determined
• See the diseases associated with chromosome 14 in the MapViewer.
Chromosome 15
• Contains approximately 1200 genes
• Contains approximately 100 million base pairs, of which over 80% have been determined
• See the diseases associated with chromosome 15 in the MapViewer.

Chromosome 16
• Contains approximately 1300 genes
• Contains approximately 90 million base pairs, of which over 85% have been determined
• See the diseases associated with chromosome 16 in the MapViewer.
Chromosome 17
• Contains over 1600 genes
• Contains approximately 80 million base pairs, of which over 95% have been determined
• See the diseases associated with chromosome 17 in the MapViewer.

Chromosome 18
• Contains over 600 genes
• Contains over 70 million base pairs, of which over 95% have been determined
• See the diseases associated with chromosome 18 in the MapViewer.

Chromosome 19
• Contains over 1700 genes
• Contains over 60 million base pairs, of which over 85% have been determined
• See the diseases associated with chromosome 19 in the MapViewer.
Chromosome 20
• Contains over 900 genes
• Contains over 60 million base pairs, of which over 90% have been determined
• See the diseases associated with chromosome 20 in the MapViewer.

Chromosome 21
• Contains over 400 genes
• Contains over 40 million base pairs, of which over 70% have been determined
• See the diseases associated with chromosome 21 in the MapViewer.

Chromosome 22
• Contains over 800 genes
• Contains over 40 million base pairs, of which approximately 70% have been determined
• See the diseases associated with chromosome 22 in the MapViewer.
Chromosome X
• Contains over 1400 genes
• Contains over 150 million base pairs, of which approximately 95% have been determined
• See the diseases associated with chromosome X in the MapViewer.
 Chromosome Y
• Contains over 200 genes
• Contains over 50 million base pairs, of which approximately 50% have been determined
• See the diseases associated with chromosome Y in the MapViewer.

How do geneticists indicate the location of a

gene?
Geneticists use maps to describe the location of a particular gene on a chromosome. One type of
map uses the cytogenetic location to describe a gene’s position. The cytogenetic location is based
on a distinctive pattern of bands created when chromosomes are stained with certain chemicals.
Another type of map uses the molecular location, a precise description of a gene's position on a
chromosome. The molecular location is based on the sequence of DNA building blocks (base
pairs) that make up the chromosome.

Cytogenetic location
Geneticists use a standardized way of describing a gene's cytogenetic location. In most cases, the
location describes the position of a particular band on a stained chromosome:
17q12
It can also be written as a range of bands, if less is known about the exact location:
17q12-q21
The combination of numbers and letters provide a gene's “address” on a chromosome. This
address is made up of several parts:
• The chromosome on which the gene can be found. The first number or letter used to
describe a gene's location represents the chromosome. Chromosomes 1 through 22 (the
autosomes) are designated by their chromosome number. The sex chromosomes are
designated by X or Y.
 • The arm of the chromosome. Each chromosome is divided into two sections (arms) based
on the location of a narrowing (constriction) called the centromere. By convention, the
shorter arm is called p, and the longer arm is called q. The chromosome arm is the second
part of the gene's address. For example, 5q is the long arm of chromosome 5, and Xp is
the short arm of the X chromosome.
• The position of the gene on the p or q arm. The position of a gene is based on a
distinctive pattern of light and dark bands that appear when the chromosome is stained in
a certain way. The position is usually designated by two digits (representing a region and
a band), which are sometimes followed by a decimal point and one or more additional
digits (representing sub-bands within a light or dark area). The number indicating the
gene position increases with distance from the centromere. For example: 14q21
represents position 21 on the long arm of chromosome 14. 14q21 is closer to the
centromere than 14q22.
Sometimes, the abbreviations “cen” or “ter” are also used to describe a gene's cytogenetic
location. “Cen” indicates that the gene is very close to the centromere. For example, 16pcen
refers to the short arm of chromosome 16 near the centromere. “Ter” stands for terminus, which
indicates that the gene is very close to the end of the p or q arm. For example, 14qter refers to the
tip of the long arm of chromosome 14. (“Tel” is also sometimes used to describe a gene's
location. “Tel” stands for telomeres, which are at the ends of each chromosome. The
abbreviations “tel” and “ter” refer to the same location.)
The CFTR gene is located on the long arm of chromosome 7 at position 7q31.2.
Credit: U.S. National Library of Medicine

Molecular location
The Human Genome Project, an international research effort completed in 2003, determined the
sequence of base pairs for each human chromosome. This sequence information allows
researchers to provide a more specific address than the cytogenetic location for many genes. A
gene’s molecular address pinpoints the location of that gene in terms of base pairs. It describes
the gene’s precise position on a chromosome and indicates the size of the gene. Knowing the
molecular location also allows researchers to determine exactly how far a gene is from other
genes on the same chromosome.
Different groups of researchers often present slightly different values for a gene’s molecular
location. Researchers interpret the sequence of the human genome using a variety of methods,
which can result in small differences in a gene’s molecular address. Genetics Home Reference
presents data from NCBI for the molecular location of genes.
SCIENCE
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