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The genome size varies greatly between organisms. A simple prokayrote has fewer than 500 protein coding genes while a human has more than 20,000. |
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Rice has the largest genome size followed by puffer fish, and then humans. |
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Gene duplication appears to be an important means by which new genes arise in evolution. |
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A key mechanism of gene duplication in sexually reproducing organisms involves unequal crossing over between homologous chromosomes during meiosis
In first phase of meiosis (meiosis I), hmologous chromosomes form pairs, with each chromosome containig two siste chromatids. |
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crossing over involves the exchange between non-sister chromatids: homologous chromosomes |
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Crossing over is a common phenomenon, and may contribute to genetic variation in natural populations
In most cases crossing over involves equal lengths of non-sister chromatids, with the breaks in the chromatids occuring at the same point. |
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Sometimes the non-sister chromatids will break at uneven points. This causes one of the chromatids to have one or more duplicated genes |
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Unequal crossing over occurs during meiosis involves chance mistakes on the part of the proteins tha tmanage recombination and constitutes a form of chromosomal mutation.
Because unequal crossing over occurs during meiosis, the resulting mutaitons are transmitted to the gametes and thus are heritable (germ line mutations) |
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Another mechanism of gene duplication tha toccurs in some eukaryotes involves the action of transposons which are sequences of DNA that have the ability to move from one part of the genome to another. |
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There are many types of transposons. In many (not all) cases, a transposon makes an RNA copy of itself, which acts as a template for the synthesis of new DNA, which then inserts itself at a new location in the genome. |
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By chance, a transposon may replicate not only itself but also adjecent gene. By inserting a new copy of the gene in another pert of the genome, the transposon causes the gene to be duplicates
many gene duplications tht arise by this mechanism are likely to be somatic mutations. |
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In addition to gene duplication by unequal crossing over or transposition, new genes may arise via polyploidy in which the complete set of chromosomes is duplicated. |
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polyploidy is also known as genome duplication, becasue all of the organism's genes are duplicated at the same time
Polyploidy is rare in animals but common in plants |
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In plants, chance errors during meiosis may lead to the production of diploid rather than haploid gamete. If two diploid gametes fuse, the resulting zygote will be tetraploid.
If the tetraploid individual can self fertilize, or if it can mate with another tetraploid then a population of tetraploid individuals may become established. |
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Recent estimates indicate that more than 50% of all angiosperm species are polyploid. Some are tetraploid, others are ocotoploid, and still others have higher ploidy levels.
Polyploidy involves germ line mutations |
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Fate of indentical copies of duplicates genes. |
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1. Both copies of the gene may retain their original function, with the result that the organism may simply produce larger quantities of the encoded polypeptide
2. One copy of the gene may retain its original function, while the second copy accumulates nunsynonymous mutations that lead to a divergence in its function.
3. One copy of the gene may retain its original function, while the second copy is incapacitates by the accumulation of deleterious mutations, such that it becomes a functionless pseudogen. the deleterious mutations may arise either within the protein-coding region or the promoter region of the gene |
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Successive rounds of duplication and dicergence may lead to evolution of gene families
In many gene families, the genes are arrayed in sets along one or more chromosomes. |
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An example is the globin gene family in vertebrates
Globin genes encode polypeptides of the oxygen-binding proteins myogloin and hemoglobin
Myoglobin is the primary oxygen storage protein in muscles
Hemoglobin carries oxygen in the blood, binding it in the lungs or gils and transporting it to various body tissues. |
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Whereas myoglobin is a monomer, hemoglobin is a tetramer consisting of four polypeptide subunits. Two of the subunits are encoded by genes in the a-globin cluster and two are encoded by genes in the so calles b-globin cluster. |
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Functional members of the clusters |
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In humans there are three functional members of the a-globin cluster and five functional members of the b-globin cluster
The functional genes within each cluster are seperates by noncoding spacer regions
Each cluster also contains one or more pseudogenes |
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During human development, different members of the b-globin cluster are expressed at different times and in different tissues
For example, just before birth there is a major switch from G-globin and A-globin expresion to B-globin expression |
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Physiological significance |
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the G-globin and A-globin polypeptides bind oxygen more tightly than does the B-globin polypeptide
The presence of the G-globin and A-globin polypeptides ensure that the oxygen will be transferred from the maternal blood to the fetal blood. |
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The molecular phylogeny suggests that the a-globin and B-globin clusters divered early from one another with subsequent duplication events giving rise to the different genes within the cluster. |
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Hox genes encode polypeptides that function as transcription factors, in that they bind to the promoter regions of other genes and control their transcription
Hox genes control differentiation along the anterior-posterior body axis in arthropods and verterbrates, and thus play a key role in regulating development |
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