11.2.2. Chromosomal or structural mutation

Chromosomal or structural mutation

The chromosomal mutations are changes in the normal structure of chromosomes without changing their number.

It changes the nucleotide sequence in DNA and therefore also the message transcribed to the mRNA. More or less large segments of the chromosomes are affected, causing changes in their structure, affecting several genes.

Types of chromosomal mutations:

If they affect the order of genes:
- Inversions.
- Translocations.
If they affect the number of genes:
- Duplications.
- Deletions.

See page for author [Public domain or Public domain], via Wikimedia Commons

Alterations in the order of genes

Two types are distinguished:

Inversions.
Translocations.

Inversions

It consists in that a chromosomal fragment has rotated 180º, so its gene sequence is inverted with respect to that of the rest of the chromosome.

As a result of inversions, loops can form during meiosis, rendering the gametes nonviable.

There are two types of inversions according to their relationship with the centromere:

Pericentric: They affect the centromere, and produce a change in the shape of the chromosome.
Paracentric: The centromere is not affected or the shape of the chromosome.

Example: hemophilia A, due to inversion affecting the factor VIII gene , on the X chromosome.

Video: Chromosome Inversions.

Video: Investment paracéntica I.

Translocations

It consists of the change of position of a fragment of the chromosome.

The translocation can occur on the same chromosome, on homologous or different chromosomes.

The mutation can be reciprocal , if fragments are exchanged, or not reciprocal, and is called transposition.

The translocations pose no deficiencies for the carrier but for their offspring, as you may inherit one chromosome incomplete or duplications.

An example: chronic myeloid leukemia, by reciprocal translocation between fragments of chromosomes 9 and 22.

Alterations due to the existence of an incorrect number of genes

They are produced as a consequence of an error in the meiotic pairing that can produce an erroneous crossover, leaving one chromosome with one more fragment and the other with one less fragment. They can also be the consequence of inversions or translocations of the parents.

The gametes produced, after fertilization, could cause:

Deletions.
Duplications.

Deletions

The deletion is produced by the loss of a chromosomal fragment, and therefore, of the genes it contains. They are usually fatal in homozygous individuals.

An example of a deletion in humans on chromosome 5 is the one that produces the cat's meow syndrome , due to the characteristic cry of babies who suffer from it.

Video: Cat Meow Syndrome.

Duplications

Duplication occurs when a chromosomal fragment is repeated on the same or another chromosome.

The deletion and duplication are caused by faulty crossovers.

Video: Changes in the structure of chromosomes.

Consequences of chromosomal mutations

The translocations and inversions, to not changing the number of genes, usually not greatly affect the carrier. The problem is greater when a gene ends up further away from other areas of the chromosome that control its expression or when they approach other regulatory areas that do not correspond to it.

The deletions and duplications can have more serious consequences, since it can transmit defective chromosomes to the offspring, being this unviable or with mutations.

Fundamental ideas about chromosomal or structural mutations

Chromosomal or structural mutations affect the sequence of nucleotides of the DNA of the chromosomes, but without changing their number.

Types of chromosomal or structural mutations:

If they affect the order of genes:
- Inversions.
- Translocations.
If they affect the number of genes:
- Duplications.
- Deletions.

Licensed under the Creative Commons Attribution Share Alike License 4.0

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Skip navigation Biology 2nd Baccalaureate Biology 2nd Bac. 1. Bioelements and biomolecules. Water and mineral salts 1.1. Chemical bonds in biology 1.1.1. Intramolecular bonds 1.1.1.1. Covalent bond 1.1.1.2. Ionic bond 1.1.2. Intermolecular bonds 1.1.2.1. Van der Waals forces 1.1.2.2. Hydrogen bonds 1.2. The chemical basis of life: inorganic and organic components 1.2.1. Primary bioelements 1.2.2. Secondary bioelements 1.2.3. Trace elements 1.3. The immediate principles or biomolecules 1.3.1. Water 1.3.1.1. Chemical structure of water 1.3.1.2. Properties and functions of water 1.3.2. Mineral salts 1.3.2.1. Functions of salts in solution 1.3.2.2. Colloidal solutions and dispersions 1.3.2.3. Properties of colloidal dispersions 1.3.2.4. Diffusion, osmosis and dialysis 1.3.2.4.1. Diffusion 1.3.2.4.2. Osmosis 1.3.2.4.3. Dialysis 1.4. Bibliography 2. Glucides 2.1. Glucid concept 2.2. Classification of carbohydrates 2.3. Monosaccharides 2.3.1. Trioses 2.3.1.1. Spatial isomerism or stereoisomerism 2.3.2. Tetroses 2.3.3. Pentoses 2.3.3.1. Monosaccharide cyclization 2.3.4. Hexoses 2.4. The N-glucosidic and O-glucosidic bonds 2.4.1. Substances derived from monosaccharides 2.5. Disaccharides 2.6. Polysaccharides 2.6.1. Homopolysaccharides 2.6.1.1. Reserve homopolysaccharides 2.6.1.2. Structural homopolysaccharides 2.6.2. Heteropolysaccharides 2.6.3. Heterosides 2.7. General functions of glucides 2.8. Bibliography 3. Lipids 3.1. Lipid concept 3.2. Classification of lipids 3.2.1. Fatty acids 3.2.1.1. Saturated and unsaturated fatty acids 3.2.1.2. Chemical properties of fatty acids 3.2.1.3. Physical properties of fatty acids 3.2.1.4. Fatty Acid Functions 3.2.2. Saponifiable lipids or with fatty acids 3.2.2.1. Simple lipids 3.2.2.1.1. Acylglycerides 3.2.2.1.2. Cerides 3.2.2.2. Complex lipids 3.2.2.2.1. Phospholipids 3.2.2.2.2. Glycolipids 3.2.3. Unsaponifiable lipids or without fatty acids 3.3. Lipid functions 3.4. Bibliography 4. Proteins 4.1. Introduction to proteins 4.2. Amino acids 4.2.1. Classification of amino acids 4.2.2. Properties of amino acids 4.3. The peptide bond 4.4. Protein 4.4.1. Protein structure 4.4.1.1. Primary structure of proteins 4.4.1.2. Secondary structure of proteins 4.4.1.3. Tertiary structure of proteins 4.4.1.4. Quaternary structure of proteins 4.4.2. Protein properties 4.4.3. Classification of proteins 4.4.3.1. Holoproteins 4.4.3.2. Heteroproteins 4.4.4. Protein functions 4.5. Enzymes 4.5.1. Structure of enzymes 4.5.2. The active center of enzymes 4.5.3. General Mechanism of Enzyme Catalysis 4.5.4. Regulation of enzyme activity 4.5.5. Allosteric enzymes 4.5.6. Nomenclature and classification of enzymes 4.6. The vitamins 4.6.1. Fat-soluble vitamins 4.6.2. Water soluble vitamins 4.7. Bibliography 5. Nucleotides and nucleic acids 5.1. The chemical composition of nucleic acids 5.1.1. Components of nucleic acids 5.1.2. Concept, types and functions of nucleic acids 5.1.3. Nucleosides 5.1.4. Nucleotides 5.1.4.1. Nucleotide functions 5.1.5. Nucleic acids 5.2. Deoxyribonucleic acid (DNA) 5.2.1. DNA structure 5.2.1.1. Primary structure of DNA 5.2.1.2. Secondary structure of DNA 5.2.1.3. Tertiary structure of DNA 5.2.1.3.1. Tertiary structure of DNA in prokaryotes 5.2.1.3.2. Tertiary structure of DNA in eukaryotes 5.2.1.4. Quaternary structure of DNA 5.2.2. DNA types 5.2.3. Genetic material: chromatin and chromosomes 5.2.3.1. Karyotype and karyogram 5.3. Ribonucleic acid (RNA) 5.3.1. RNA types 5.3.1.1. Transfer RNA 5.3.1.2. Messenger RNA 5.3.1.3. Ribosomal RNA 5.3.1.4. Nucleolar RNA 5.3.1.5. Small nuclear RNA 5.3.2. Functions of ribonucleic acids 5.4. Bibliography 6. Cell morphology 6.1. Cell concept 6.1.1. Cell history 6.1.2. Cell theory 6.2. Levels of cellular organization 6.2.1. General characteristics of cells 6.2.2. Prokaryotic cells 6.2.2.1. Prokaryotic cell morphology 6.2.2.2. Structure of prokaryotes 6.2.2.2.1. Bacterial capsule 6.2.2.2.2. Bacterial wall 6.2.2.2.3. Plasma membrane 6.2.2.2.4. Cytoplasm-Ribosomes-Inclusions 6.2.2.2.5. Bacterial DNA 6.2.2.2.6. Bacterial appendages 6.2.2.3. Bacteria Physiology 6.2.3. Eukaryotic cells 6.2.3.1. Animal and plant cell 6.2.3.1.1. Animal eukaryotic cell 6.2.3.1.2. Plant eukaryotic cell 6.2.3.2. Cell Evolution: Endosymbiont Theory 6.3. Size, shape and quantity 6.4. The plasma membrane 6.4.1. Chemical composition of the membrane 6.4.2. The structure of the membrane. The fluid mosaic model 6.4.3. Functions of the plasma membrane 6.4.4. Transport across the membrane 6.4.4.1. Small molecule transport 6.4.4.2. Macromolecule transport 6.4.5. Plasma membrane differentiations 6.5. The cell wall of plant cells 6.5.1. Chemical composition of the cell wall 6.5.2. Cell wall structure 6.5.3. Cell wall differentiations 6.5.4. Cell wall functions 6.6. Extracellular matrix or glucocalyx 6.7. Cytosol or hyaloplasm 6.8. The cytoskeleton 6.8.1. Microfilaments or actin filaments 6.8.2. Intermediate filaments 6.8.3. Microtubules 6.9. Cell membrane and organelle systems 6.9.1. Membrane systems 6.9.1.1. The endoplasmic reticulum 6.9.1.2. Golgi apparatus 6.9.2. Cell organelles 6.9.2.1. Lysosomes 6.9.2.2. Peroxisomes 6.9.2.3. Vacuoles 6.9.2.4. Mitochondria 6.9.2.4.1. Functions of the mitochondria 6.9.2.5. Plastids 6.9.2.5.1. Chloroplasts 6.9.2.6. Ribosomes 6.9.2.7. Centrosome 6.9.2.8. Cilia and flagella 6.10. Cell motility 6.11. The cell nucleus 6.11.1. Characteristics of the cell nucleus 6.11.2. The interphase nucleus 6.11.3. The mitotic nucleus or nucleus in division 6.12. Bibliography 7. Metabolism 7.1. Metabolism 7.1.1. Energetic Aspects of Cellular Chemical Reactions 7.2. Catabolism 7.2.1. Catabolism and obtaining energy 7.2.2. Carbohydrate catabolism 7.2.2.1. Glycolysis 7.2.2.2. Cellular respiration 7.2.2.2.1. Oxidative decarboxylation 7.2.2.2.2. Krebs cycle 7.2.2.2.3. Electron transport chain 7.2.2.2.4. Energy balance of cellular respiration 7.2.2.3. Fermentations 7.2.2.3.1. Alcoholic or ethyl fermentation 7.2.2.3.2. Lactic fermentation 7.2.2.3.3. Other types of fermentations 7.3. Anabolism 7.3.1. Autotrophic anabolism 7.3.2. Photosynthesis 7.3.2.1. Photochemical or light phase 7.3.2.1.1. Photosystems 7.3.2.1.2. Photophosphorylation 7.3.2.1.2.1. Non cyclic photophosphorylation 7.3.2.1.2.2. Cyclic photophosphorylation 7.3.2.2. Biosynthetic or dark phase 7.3.2.3. Factors influencing photosynthesis 7.3.2.4. Products of photosynthesis 7.3.3. Chemosynthesis 7.4. Bibliography 8. Cell reproduction 8.1. The cell cycle 8.1.1. Interphase 8.1.2. Cellular division 8.2. Cellular division 8.2.1. Mitosis 8.2.1.1. Prophase 8.2.1.2. Metaphase 8.2.1.3. Anaphase 8.2.1.4. Telophase 8.2.1.5. Cytokinesis 8.2.1.6. More on mitosis 8.2.2. Meiosis 8.2.2.1. Meiosis I 8.2.2.2. Meiosis II 8.2.3. Meiosis and sexual reproduction 8.2.4. Meiosis and life cycle 8.2.5. Biological importance of meiosis 8.3. Differences and similarities between mitosis and meiosis 8.4. Bibliography 9. Classical genetics 9.1. Genetics basics 9.2. Mendelian genetics 9.2.1. The method 9.2.2. Mendel's Laws 9.2.2.1. Mendel's first law or principle of uniformity in the first generation 9.2.2.2. Mendel's second law or principle of segregation 9.2.2.2.1. Backcross and test crossover 9.2.2.3. Mendel's third law or principle of independent combination 9.3. Gene interaction 9.3.1. Gene interaction between allelic genes 9.3.2. Gene interaction between non-allelic genes that influence for the same trait 9.4. Chromosomal theory of heredity 9.5. Ligation and recombination 9.6. Complex mendelism 9.6.1. Multiple allelism 9.6.1.1. Lethal genes 9.6.2. Pleiotropy 9.6.3. Expressiveness and genetic penetrance 9.7. Sex-linked inheritance 9.7.1. Y-linked inheritance 9.7.2. X-linked inheritance 9.8. Heredity influenced by sex 9.9. Bibliography 10. Molecular genetics 10.1. DNA as hereditary material 10.2. DNA replication 10.2.1. The need for DNA replication 10.2.2. First hypotheses about DNA duplication 10.2.3. Meselson and Stahl experiment 10.2.4. The sense of growth of the new strands 10.2.5. Mechanism of DNA replication 10.2.5.1. Replication in prokaryotes 10.2.5.2. Replication in eukaryotes 10.2.6. Error correction 10.2.7. Enzymes involved in replication 10.3. Gene concept 10.4. "One gene-one enzyme" theory 10.5. Transcription 10.5.1. Mechanism of transcription 10.5.1.1. Transcription in prokaryotes 10.5.1.2. Eukaryotic transcription 10.6. Translation or protein biosynthesis 10.6.1. The genetic code 10.6.2. Mechanism of translation of RNA to proteins 10.6.2.1. Translation in eukaryotes 10.7. Regulation of gene expression 10.8. Bibliography 11. Genetics and evolution 11.1. Mutations 11.2. Types of mutations 11.2.1. Gene or point mutation 11.2.2. Chromosomal or structural mutation 11.2.3. Mutation at the genomic level 11.3. Causes of mutations 11.4. Evolutionary implications of mutations 11.5. Metabolic implications of mutations 11.6. Bibliography 12. Microbiology and biotechnology 12.1. Microbiology 12.2. Viruses 12.2.1. Viral morphology 12.2.2. Viral physiology 12.2.2.1. Lytic cycle 12.2.2.2. Lysogenic cycle 12.2.2.3. Cycles of viruses of special interest 12.2.2.3.1. Flu virus life cycle 12.2.2.3.2. Life cycle of the AIDS virus 12.3. Other acellular forms 12.3.1. Viroids 12.3.2. Prions 12.4. Biotechnology 12.5. Bibliography 13. Immunology 13.1. Infection concept 13.2. Defense mechanisms against infections 13.2.1. Nonspecific mechanisms 13.2.1.1. Primary barriers: external defenses 13.2.1.2. Secondary barriers: internal defenses 13.2.2. Specific mechanisms 13.3. Immunity and immune system 13.3.1. Components of the immune system 13.3.2. Concept and nature of antigens 13.4. The immune response 13.4.1. Humoral immune response: the antibodies 13.4.1.1. Antibody-producing cells: B lymphocytes 13.4.1.2. Antibodies 13.4.1.2.1. Types of antibodies 13.4.1.2.2. Antigen-antibody reaction 13.4.1.3. Immune memory: primary and secondary responses 13.4.2. Cellular immune response: T lymphocytes 13.5. Types of immunity 13.5.1. Natural immunity 13.5.2. Artificial immunity 13.6. Immune system disorders 13.6.1. Autoimmunity 13.6.2. Hypersensitivity 13.6.3. Immunodeficiency 13.6.4. Transplants and the phenomenon of rejections 13.7. Bibliography « Previous \| Next » 11.2.2. Chromosomal or structural mutation Chromosomal or structural mutation The chromosomal mutations are changes in the normal structure of chromosomes without changing their number. It changes the nucleotide sequence in DNA and therefore also the message transcribed to the mRNA. More or less large segments of the chromosomes are affected, causing changes in their structure, affecting several genes. Types of chromosomal mutations: If they affect the order of genes: Inversions. Translocations. If they affect the number of genes: Duplications. Deletions. See page for author [Public domain or Public domain], via Wikimedia Commons Alterations in the order of genes Two types are distinguished: Inversions. Translocations. Inversions It consists in that a chromosomal fragment has rotated 180º, so its gene sequence is inverted with respect to that of the rest of the chromosome. As a result of inversions, loops can form during meiosis, rendering the gametes nonviable. There are two types of inversions according to their relationship with the centromere: Pericentric: They affect the centromere, and produce a change in the shape of the chromosome. Paracentric: The centromere is not affected or the shape of the chromosome. Example: hemophilia A, due to inversion affecting the factor VIII gene , on the X chromosome. Video: Chromosome Inversions. Video: Investment paracéntica I. Translocations It consists of the change of position of a fragment of the chromosome. The translocation can occur on the same chromosome, on homologous or different chromosomes. The mutation can be reciprocal , if fragments are exchanged, or not reciprocal, and is called transposition. The translocations pose no deficiencies for the carrier but for their offspring, as you may inherit one chromosome incomplete or duplications. An example: chronic myeloid leukemia, by reciprocal translocation between fragments of chromosomes 9 and 22. Alterations due to the existence of an incorrect number of genes They are produced as a consequence of an error in the meiotic pairing that can produce an erroneous crossover, leaving one chromosome with one more fragment and the other with one less fragment. They can also be the consequence of inversions or translocations of the parents. The gametes produced, after fertilization, could cause: Deletions. Duplications. Deletions The deletion is produced by the loss of a chromosomal fragment, and therefore, of the genes it contains. They are usually fatal in homozygous individuals. An example of a deletion in humans on chromosome 5 is the one that produces the cat's meow syndrome , due to the characteristic cry of babies who suffer from it. Video: Cat Meow Syndrome. Duplications Duplication occurs when a chromosomal fragment is repeated on the same or another chromosome. The deletion and duplication are caused by faulty crossovers. Video: Changes in the structure of chromosomes. Consequences of chromosomal mutations The *translocations* and inversions, to not changing the number of genes, usually not greatly affect the carrier. The problem is greater when a gene ends up further away from other areas of the chromosome that control its expression or when they approach other regulatory areas that do not correspond to it. The deletions and duplications can have more serious consequences, since it can transmit defective chromosomes to the offspring, being this unviable or with mutations. Fundamental ideas about chromosomal or structural mutations Chromosomal or structural mutations affect the sequence of nucleotides of the DNA of the chromosomes, but without changing their number. Types of chromosomal or structural mutations: If they affect the order of genes: Inversions. Translocations. If they affect the number of genes: Duplications. Deletions. Licensed under the Creative Commons Attribution Share Alike License 4.0 « Previous \| Next » These pages are semi-automatically translated from the web Biology 2nd Baccalaureate. Biología de 2º de Bachillerato (biologia-geologia.com). You can make any suggestion, question, comment, ..., in our forum 2º Bachillerato Biología - Foro de biologia-geologia.com
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