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SOMATIC CELL GENETICS
1
By
KAUSHAL KUMAR SAHU
Assistant Professor (Ad Hoc)
Department of Biotechnology
Govt. Digvijay Autonomous P. G. College
Raj-Nandgaon ( C. G. )
SYNOPSIS
Introduction
Genetics of somatic cell
Somatic cell genetics
Somatic cell nuclear transfer
Somatic cell hybridization
Mapping human genes by using human rodent hybrids
In medical application
Production of monoclonal antibodies by using hybridoma technology
Conclusion
References 2
INTRODUCTION
The word "somatic" is derived from the Greek word soma, meaning "body”.
A somatic cell or vegetal cell is any biological cell forming the body of an organism; that is, in
a multicellular organism, any cell other than a gamete, germ cell, gametocyte or undifferentiated stem cell.
In contrast, gametes are cells that fuse during sexual reproduction, germ cells are cells that rise to gametes,
and stem cells are cells that can divide through mitosis and differentiate into diverse specialized cell type.
 For example, in mammals somatic cells make up all the internal organs, skin, bones, blood and connective
tissue, while mammalian germ cells give rise to spermatozoa and ova which fuse during fertilization to
produce a cell called a zygote, which divides and differentiates into the cells of an embryo.
There are approximately 220 types of somatic cells in the human body.
3
GENETICS OF SOMATIC CELL
If a somatic cell contains chromosomes arranged in pairs, it is
called diploid and the organism is called a diploid organism.
The gametes of diploid organisms contain only single unpaired
chromosomes and are called haploid.
In humans, somatic cells contain 46 chromosomes or 23
homologous pairs of chromosomes.
4
SOMATIC CELL GENETICS
Somatic cell genetics, strictly speaking, means genetic studies of cells
other than germ cells, but it is usually used more restrictively, referring to
mammalian cells in tissue culture.
In recent years, the technique of cloning whole organisms has been
developed in mammals, allowing almost identical genetic clones of
an animal to be produced.
 One method of doing this is called "somatic cell nuclear transfer" and
involves removing the nucleus from a somatic cell, usually a skin cell.5
SOMATIC CELL NUCLEAR TRANSFER (SCNT)
Somatic cell nuclear transfer (SCNT) is a laboratory strategy for creating a viable
embryo from a body cell and an egg cell.
The technique consists of taking an enucleated oocyte (egg cell) and implanting a
donor nucleus from a somatic (body) cell.
It is used in both therapeutic and reproductive cloning.
Dolly the Sheep became famous for being the first successful case of the
reproductive cloning of a mammal.
The first animal that was developed by this technique was Dolly, the sheep, in 1996.
6
7
8
SOMATIC CELL HYBRIDIZATION
In animals fusion of two different cells and production of a hybrid cell have been
successfully achieved.
In 1960s, in France, the hybrid cells were successfully produced from mixed
cultures of two different cell lines of mouse.
Moreover, within the body fusion of myoblasts and formation of multinucleate
fibers may be exemplified.
They can also be allowed to fuse in vitro and form heterokaryons. Macrophages
fuse around the foreign body or bacterial cells in the tissues.
Bone cells are also known to undergo somatic cell fusion.
9
10
MAPPING HUMAN GENES BY USING HUMAN RODENT HYBRIDS
The technique of somatic cell hybridization is extensively used in human genome mapping, but it can in
principle be used in many different animal systems.
The procedure uses cells growing in culture. A virus called the Sendai virus has a useful property that makes the
mapping technique possible.
Each Sendai virus has several points of attachment, so it can simultaneously attach to two different cells if they
happen to be close together.
However, a virus is very small in comparison with a cell, so the two cells to which the virus is attached are held
very close together indeed. In fact, the membranes of the two cells may fuse together and the two cells become
one—a binucleate heterokaryon.
11
12
IN MEDICAL APPLICATION
• production and mode of action of t-PA
13
Blood Factor VIII
Hemophilia A is a blood disorder which is a sex-linked genetic disease in humans.
The patients suffering from Haemophilia a lack factor VIII, which plays an important role in the clotting of
blood.
Current therapy for this disease is the transfusion of blood factor VIII into patients. Using rDNA technology,
Factor VIII has been produced from mammalian cell culture e.g. Hamster kidney cell.
This factor VIII is secreted by a gene present on X-chromosome but this gene undergoes mutations in people
suffering from haemophilia.
14
Erythropoietin (EPO)
The EPO is a glycoprotein consisting of 165 amino acids and is formed in
the foetal liver and kidneys of the adults.
It causes proliferation and differentiation of progenitor cells into the
erythrocytes (erythroblasts) in the bone marrow.
 Erythropoietin is hormone-like in nature and is released by the kidney
under hypoxic or anoxic conditions caused by anaemia.
15
PRODUCTION OF MONOCLONAL ANTIBODIES BY USING
HYBRIDOMA TECHNOLOGY
The monoclonal antibodies are used in the diagnosis of diseases because of the
presence of desired immunity. However, these antibody secreting cells cannot be
maintained in culture.
It was observed that the myeloma cells (bone marrow tumor cells due to cancer) grow
indefinitely and also produce immunoglobulins which are infect monoclonal
antibodies.
In 1974, George Kohler and Milstein isolated clones of cells from the fusion of two
parental cell lines – lymphocytes from spleen of mice immunized with red blood cells
from sheep and myeloma cells.
These cells were maintained in vitro and produced antibodies.
16
17
Advantage of MABs
High reproducibility.
Radiolabeling & fluorescent conjugation or enzyme marking of MABs are easy.
Specificity for one antigenic determination.
Antiserum titer values obtained are very high.
Antibodies with high chemotherapy.
Disadvantage of MABs
time consuming process
Average affinity of monoclonal antibodies are generally lower.
Any physical/ chemical treatment will affect all monoclonal antibodies in that production.
18
19
CONCLUSION
All cells, somatic cells contain DNA arranged in chromosomes.
The gametes of diploid organisms contain only single unpaired
chromosomes and are called haploid.
Each pair of chromosomes comprises one chromosome inherited from
the father and one inherited from the mother.
20
REFERENCES
https://www.accessscience.com/content/somatic-cell-genetics/636300
https://www.annualreviews.org/doi/pdf/10.1146/annurev.ge.16.120182.001301
https://biocyclopedia.com/.../biotechnology/animal_biotechnology/animal_cell.../biote...
https://www.ncbi.nlm.nih.gov/books/NBK22066/
http://www.biotechnology4u.com/animal_biotechnology_applications_animal_cell_culture.
html
21

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Somatic cell genetics by kk sahu

  • 1. SOMATIC CELL GENETICS 1 By KAUSHAL KUMAR SAHU Assistant Professor (Ad Hoc) Department of Biotechnology Govt. Digvijay Autonomous P. G. College Raj-Nandgaon ( C. G. )
  • 2. SYNOPSIS Introduction Genetics of somatic cell Somatic cell genetics Somatic cell nuclear transfer Somatic cell hybridization Mapping human genes by using human rodent hybrids In medical application Production of monoclonal antibodies by using hybridoma technology Conclusion References 2
  • 3. INTRODUCTION The word "somatic" is derived from the Greek word soma, meaning "body”. A somatic cell or vegetal cell is any biological cell forming the body of an organism; that is, in a multicellular organism, any cell other than a gamete, germ cell, gametocyte or undifferentiated stem cell. In contrast, gametes are cells that fuse during sexual reproduction, germ cells are cells that rise to gametes, and stem cells are cells that can divide through mitosis and differentiate into diverse specialized cell type.  For example, in mammals somatic cells make up all the internal organs, skin, bones, blood and connective tissue, while mammalian germ cells give rise to spermatozoa and ova which fuse during fertilization to produce a cell called a zygote, which divides and differentiates into the cells of an embryo. There are approximately 220 types of somatic cells in the human body. 3
  • 4. GENETICS OF SOMATIC CELL If a somatic cell contains chromosomes arranged in pairs, it is called diploid and the organism is called a diploid organism. The gametes of diploid organisms contain only single unpaired chromosomes and are called haploid. In humans, somatic cells contain 46 chromosomes or 23 homologous pairs of chromosomes. 4
  • 5. SOMATIC CELL GENETICS Somatic cell genetics, strictly speaking, means genetic studies of cells other than germ cells, but it is usually used more restrictively, referring to mammalian cells in tissue culture. In recent years, the technique of cloning whole organisms has been developed in mammals, allowing almost identical genetic clones of an animal to be produced.  One method of doing this is called "somatic cell nuclear transfer" and involves removing the nucleus from a somatic cell, usually a skin cell.5
  • 6. SOMATIC CELL NUCLEAR TRANSFER (SCNT) Somatic cell nuclear transfer (SCNT) is a laboratory strategy for creating a viable embryo from a body cell and an egg cell. The technique consists of taking an enucleated oocyte (egg cell) and implanting a donor nucleus from a somatic (body) cell. It is used in both therapeutic and reproductive cloning. Dolly the Sheep became famous for being the first successful case of the reproductive cloning of a mammal. The first animal that was developed by this technique was Dolly, the sheep, in 1996. 6
  • 7. 7
  • 8. 8
  • 9. SOMATIC CELL HYBRIDIZATION In animals fusion of two different cells and production of a hybrid cell have been successfully achieved. In 1960s, in France, the hybrid cells were successfully produced from mixed cultures of two different cell lines of mouse. Moreover, within the body fusion of myoblasts and formation of multinucleate fibers may be exemplified. They can also be allowed to fuse in vitro and form heterokaryons. Macrophages fuse around the foreign body or bacterial cells in the tissues. Bone cells are also known to undergo somatic cell fusion. 9
  • 10. 10
  • 11. MAPPING HUMAN GENES BY USING HUMAN RODENT HYBRIDS The technique of somatic cell hybridization is extensively used in human genome mapping, but it can in principle be used in many different animal systems. The procedure uses cells growing in culture. A virus called the Sendai virus has a useful property that makes the mapping technique possible. Each Sendai virus has several points of attachment, so it can simultaneously attach to two different cells if they happen to be close together. However, a virus is very small in comparison with a cell, so the two cells to which the virus is attached are held very close together indeed. In fact, the membranes of the two cells may fuse together and the two cells become one—a binucleate heterokaryon. 11
  • 12. 12
  • 13. IN MEDICAL APPLICATION • production and mode of action of t-PA 13
  • 14. Blood Factor VIII Hemophilia A is a blood disorder which is a sex-linked genetic disease in humans. The patients suffering from Haemophilia a lack factor VIII, which plays an important role in the clotting of blood. Current therapy for this disease is the transfusion of blood factor VIII into patients. Using rDNA technology, Factor VIII has been produced from mammalian cell culture e.g. Hamster kidney cell. This factor VIII is secreted by a gene present on X-chromosome but this gene undergoes mutations in people suffering from haemophilia. 14
  • 15. Erythropoietin (EPO) The EPO is a glycoprotein consisting of 165 amino acids and is formed in the foetal liver and kidneys of the adults. It causes proliferation and differentiation of progenitor cells into the erythrocytes (erythroblasts) in the bone marrow.  Erythropoietin is hormone-like in nature and is released by the kidney under hypoxic or anoxic conditions caused by anaemia. 15
  • 16. PRODUCTION OF MONOCLONAL ANTIBODIES BY USING HYBRIDOMA TECHNOLOGY The monoclonal antibodies are used in the diagnosis of diseases because of the presence of desired immunity. However, these antibody secreting cells cannot be maintained in culture. It was observed that the myeloma cells (bone marrow tumor cells due to cancer) grow indefinitely and also produce immunoglobulins which are infect monoclonal antibodies. In 1974, George Kohler and Milstein isolated clones of cells from the fusion of two parental cell lines – lymphocytes from spleen of mice immunized with red blood cells from sheep and myeloma cells. These cells were maintained in vitro and produced antibodies. 16
  • 17. 17
  • 18. Advantage of MABs High reproducibility. Radiolabeling & fluorescent conjugation or enzyme marking of MABs are easy. Specificity for one antigenic determination. Antiserum titer values obtained are very high. Antibodies with high chemotherapy. Disadvantage of MABs time consuming process Average affinity of monoclonal antibodies are generally lower. Any physical/ chemical treatment will affect all monoclonal antibodies in that production. 18
  • 19. 19
  • 20. CONCLUSION All cells, somatic cells contain DNA arranged in chromosomes. The gametes of diploid organisms contain only single unpaired chromosomes and are called haploid. Each pair of chromosomes comprises one chromosome inherited from the father and one inherited from the mother. 20