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62 Cards in this Set

  • Front
  • Back

Point mutations

Changes in just one nucleotide pair of a gene


This can lead to production of an abnormal protein


ie: change in A and T in DNA can produce a U instead of an A in mRNA which codes for a different amino acid

Gene expression

Process by which DNA directs protein synthesis


In 2 stages: transcription and translation

Archibald garrod

1902 said genes dictate phenotypes through enzymes that catalyze specific chemical reactions


He thought symptoms of an inherited disease reflect an inability to synthesize a certain enzyme


ie: black urine=lack of enzyme that breaks down alkapton

Metabolic pathway

Cells synthesize and degrade molecules in a series of steps

Beadle and Tatum

Exposed bread mold to X-rays (creating mutants)


3 classes of arginine-deficient mutants


Each lacked a different enzyme needed for synthesizing arguine

Results of beadle and Tatum experiment provided support for...

One gene-one enzyme hypothesis


Which states that the function of a gene is to dictate production of a specific enzyme

Revised hypothesis is...

One gene-one protein bc not all proteins are enzymes


Many enzymes are composed of several polypeptides so new hyp: one gene-one polypeptide

Bridge between genes and the proteins for which they code..

RNA

Transcription

Synthesis of RNA using DNA information


Produces mRNA

Translation

Synthesis of an polypeptide using information in the mRNA


Ribosomes are the sites of translation

In prokaryotes, translation of mRNA can begin before...

Transcription has finished


In eukaryotic cells, the nuclear envelope separates transcription from translation

Primary transcript

Initial RNA transcript from any gene prior to processing


In eukaryotic RNA transcripts are modified through RNA to yield mRNA


Cells are governed by a cellular chain:


DNA to RNA to Protein

Triplet code

Flow of information from gene to protein


Transcribed into nonoverlapping three-nucleotide words of mRNA


These words are then translated into a chain of amino acids (forming a polypeptide)

Template strand

Provides a template for ordering the sequence of complementary nucleotides in an RNA transcript


Always same strand for a given gene


Determined by orientation of transcribing enzyme which is dependent of the DNA sequence at gene

Coding strand

Nontemplate strand


Nucleotides of this strand are identical to the RNA made

Codons

mRNA base triplets


Read in the 5’ to 3’ direction


Specifies the amino acid to be placed at the corresponding position along a polypeptide

How many codons?

64 deciphered in 1960s


61 are for amino acids, 3 triplets are stop signals to end translation

The genetic code is redundant but not..

Ambiguous


More than one codon may specify a particular amino acid but no codon specifies more than one amino acid

Reading frame

Correct groupings


Codons must be read in the correct order for the polypeptide to be produced

Genetic code and evolution

Genetic code is nearly universal


Shared by simplest bacteria and most complex animals


Genes can be transcribed and translated after being transplanted from one species to another

Transcription factors

A collection of proteins in eukaryotes


Mediate binding of RNA polymerase and initiation

Transcription initiation complex

Complex of transcription factors and RNA polymerase II bonded ton promoter

TATA box

Promoter


Crucial in forming the initiation complex

Elongation of RNA strand in transcription process

O

Transcription

First stage of gene expression

RNA polymerase

Catalyzes RNA synthesis


Pries DNA strands apart and joins RNA nucleotides

RNA is complementary to the..

DNA strand


RNA polymerase does not need a primer


RNA follows same base pairing rules as DNA except uracil subs for thymine

Initiation of transcription

Promoters signal start point and extend several dozen nucleotide pairs upstream of start point


Transcription factors mediate binding of RNA polymerase and initiation of transcription


All transcription factor and RNA polymerase create initiation complex


TATA box promoter forms the initiation complex in eukaryotes

Start point

The nucleotide where RNA polymerase actually begins synthesis of the mRNA


Extends several dozen nucleotides pairs upstream from start pint

Transcription unit

Stretch of DNA that is transcribed

3 stages of RNA transcription

Initiation


Elongation


Termination

Initiation of transcription

Promoters signal start point and extend several dozen nucleotide pairs upstream of start point


Transcription factors mediate binding of RNA polymerase and initiation of transcription


All transcription factor and RNA polymerase create initiation complex


TATA box promoter forms the initiation complex in eukaryotes

Elongation of RNA strand in transcription process

RNA polymerase moves along the DNA, it untwist the double helix (10-20 bases at a time)


Nucleotides are added to the 3’ end of the growing RNA molecule

Transcription progresses at a rate of....

40 nucleotides per second in eukaryotes


A gene can be transcribed simultaneously by several RNA polymerases

Termination of transcription

In eukaryotes-RNA polymerase II transcribes the polyadenylation signal (AAUAAA) sequence


RNA transcript is released 10-35 nucleotides past this polyadenylation sequence


Different in bacteria

Termination in bacteria

The polymerase stops transcription at the end of the terminator


Detaches from DNA and releases transcript


Requires no further modification

Eukaryotic cells modify RNA after...

Transcription

Alternative RNA splicing

Some introns contain sequences that may regulate gene expression


Some genes can encode more than one kind of polypeptide (depending on which segments are treated as exons during splicing)


Consequently, number of different proteins produced is greater than its number of genes

Domains

discrete regions in proteins, modular architecture


Different Exons code for different domains in a protein


Exon shuffling may result in new evolution of new proteins

RNA processing

Enzymes in the eukaryotic nucleus modify pre-mRNA before the genetic messages are released into cytoplasm

During RNA processing, both ends of the primary transcript are

Altered


In most cases, certain middle sections of molecule are cut out and remaining parts spliced together also

Each end of a pre-mRNA molecule is modified in a particular way

5’ end receives a modified nucleotide 5’cap


3’ end gets a poly-A tail

End modifications share several functions

Facilitate the export of mRNA to the cytoplasm


Protect mRNA from hydro lyric enzymes


Help ribosomes attach to 5’ end

Long noncoding stretches of nucleotides that lie between coding regions...

Introns and Exons

Introns

No coding regions


Intervening sequences

Exons

Other regions


Eventually expressed (translated into amino acid sequences)

RNA splicing

Removes introns and joins Exons


Creates an mRNA molecule with a continuous coding sequence

Spliceosomes

Consist of different proteins and several small RNAs that recognize the splice site


Carries out RNA splicing in some cases


RNAs of the spliceosome also catalyze the splicing reaction

Eukaryotic cells modify RNA after...

Transcription

Alternative RNA splicing

Some introns contain sequences that may regulate gene expression


Some genes can encode more than one kind of polypeptide (depending on which segments are treated as exons during splicing)


Consequently, number of different proteins produced is greater than its number of genes

Domains

discrete regions in proteins, modular architecture


Different Exons code for different domains in a protein


Exon shuffling may result in new evolution of new proteins

Ribozymes

Catalytic RNA molecules that function as enzymes and can splice RNA

End modifications share several functions

Facilitate the export of mRNA to the cytoplasm


Protect mRNA from hydro lyric enzymes


Help ribosomes attach to 5’ end

During RNA processing, both ends of the primary transcript are

Altered


In most cases, certain middle sections of molecule are cut out and remaining parts spliced together also

Each end of a pre-mRNA molecule is modified in a particular way

5’ end receives a modified nucleotide 5’cap


3’ end gets a poly-A tail

End modifications share several functions

Facilitate the export of mRNA to the cytoplasm


Protect mRNA from hydro lyric enzymes


Help ribosomes attach to 5’ end

RNA splicing

Removes introns and joins Exons


Creates an mRNA molecule with a continuous coding sequence

Spliceosomes

Consist of different proteins and several small RNAs that recognize the splice site


Carries out RNA splicing in some cases


RNAs of the spliceosome also catalyze the splicing reaction

Exons

Other regions


Eventually expressed (translated into amino acid sequences)

Domains

discrete regions in proteins, modular architecture


Different Exons code for different domains in a protein


Exon shuffling may result in new evolution of new proteins

Spliceosomes

Consist of different proteins and several small RNAs that recognize the splice site


Carries out RNA splicing in some cases


RNAs of the spliceosome also catalyze the splicing reaction

Small scale mutations

Point mutations within a gene can be divided into two categories