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Another day in the life of a gene. |
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Splicing in some genes seems straightforward
such as globin |
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Fibrillin is a protein that is part of
connective tissue. Mutations in it
are associated with Marfan Syndrome (long limbs, crowned teeth elastic
joints, heart problems and spinal column deformities. The protein is 3500 aa, and the gene is
110 kb long made up of 65 introns. |
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Titin has 175 introns. |
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With these large complex genes it is difficult
to identify all of the exons and introns. |
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Shortly after the discovery of splicing came the
realization that the exons in some genes were not utilized in the same way
in every cell or stage of development.
In other words exons could be skipped or added. This means that variations of a protein
(called isoforms) can be produced from the same gene. |
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Translation of the mRNA into protein |
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The experiments of Charles Yanofsky and Syndey
Brenner demonstrated that the sequential arrangement of nucleotides along a
gene code for a sequential arrangement of amino acids in its encoded
protein. |
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The code in DNA (and ultimately mRNA is read in
triplets). |
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The code is degenerate. |
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Ribosomal RNA is transcribed as a 45S precursor
RNA, synthesized in the nucleolus by polI from thousands of copies of the
gene. |
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The 45S precursor (13,000 nt)is processed into 3
smaller RNAs 28S (5000 nt), 18S (2000 nt) and 5.8S (160 nt) |
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The 5S subunit is synthesized by polIII from a
cluster of 2000 genes located separately from the other ribosomal genes |
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Some 80 proteins associate with the rRNAs to
make up complete ribosome. |
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Small ribosomal subunit (40S) contains 18S rRNA
while the large 60S subunit contains the remaining rRNAs |
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tRNAs are small 70-90 nt |
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there are about 32 different tRNAs in most
organisms |
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the tRNAs contain unusual modified nucleotides |
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aminoacyl-tRNA synthetases charge tRNAs with
amino acids |
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tRNAs function to deliver the amino acids to the
ribosomes for protein synthesis |
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