The Project
For this project, we were tasked with researching a disease caused by a mutated protein. My group decided to research Gaucher disease, a condition that prevents the body from removing lipids from its organs. We also researched the process that the body uses to synthesize proteins.
Common Location of Mutation
DNA Sequence
|
mRNA Sequence
|
Amino Acid Sequence
|
Full GBA Gene dna sequence
gggtatatgt gaatgacaac tttaggaaga gcctagaata cgaaagacag acttggatgg
agaatcgggt aaagattcct aaatcccaga ggatgggaac cacagcaggc acgctgcttt
tttgataaaa atttcaaaat gatacaaata aagctaatac caaaaaaaaa acaaagaaca
aaaacaaaaa aaccttcatt gcacaacatg ctgaggctac cgtgatgttt aagacacagt
ctttgcccta tagaggtgca tgaagcatgg aagtcagaca cagatattta caggtaaaaa
cagaaacagt aacaggtgtg catggagagc tctctgagat gaggagggac cattcgtggg
tggggaatta tccaggatgc cttcaacaca ggaaaaagtg aggggggtta ttagccagtg
aagtgtaggg cgcaaggagg gtgggacact ggcagtgggg tggcaggact ggagggaggg
gagtggtcag cttggctccc ctgcagcacc cctcatttac tcattaaggg cctcggagag
tcacatgaca caggcagtga ggcaattgca gccatatctc taaagggcaa ttggcttcca
gatgcagatt gtaataactg ttcttccttc ctcacaggac agtgaggttt taaagtagtt
cagaaaccag aaagtgttgt aaaaggccat atgcttagtg gacatgtgaa ggaagttgtc
catgccattt gcctcatgaa ccacatcaaa tgagatttgg tgggagtggc acacacagtc
atgaccagac taaccccagc tctcagccta tttcctcacc tagaaaatgg aggcaatgcc
acaacctcaa aggggtcagt gaggtaaatg cagtgcctgg caacttggga ggcgcctggg
aactatttgt ctgttgtttg tatctttttt tgtacagttt tagtgagacg gcaaggttgg
aatccttgct acaccattta ctggctgttt gaccttcagt aaatcaatca ctctaagcct
ctatttcatc tataaaaggg gagtgataac tcctacctca tagaactgtt gtgaggtttg
agtgtgataa tgtgtctcta gtacactgct tgacactaaa cattgcaaca tgtcaggcct
ctgttcctgg agttccttga aggaatgtct tacacattct aaatatcctt gtagacagcc
tggcacaggg gtagttgtca agttgtagaa ttgaactagt tgcttcacta tgtcagtagc
caccccttcc agacttcctg cttttctctt ttttttttgt ttttttgaga tgatgtctca
ctctgtcacc cagtctggag tgcagtggcc gatctcagct caccgcaacc tctgcctccc
aggttcaagc aattctcctg cctcagcctc ccaagtagtt gggactacag gcacgcacca
ccacgcccgg ctaatttttg tattttagta gagatggggt ttcaccatgt tagccagact
ggtctcaatc tcctgacctc aggtgattcg cacactttgg cctcccaaag ggctgggatt
acaggcgtga gccacagcac ccggcctgac ttcctgctct tcaaggaaac gttgcacagg
atttgttctg ggtagggcag gtaattatct agtaccttac ttccctcaaa ttcattcatc
tcacagatat ttcctgagca cattccacat ttgcctctcc tgctttagcg agtttagaag
ttcaaccatc tcctttctct taccctctgt gtacagggag tgagctgctt cttttttggc
caggtactga gcaaaatttt tttttttttt gagacggagt cttgctctgt ctcccaggct
ggagtgcagt ggcacgatct cggctcactg caagctccgc ctcccggatt cacgccattc
tcctgcctca gcctcctgag tagctgggac tacaggcgcc tgccaccaca cccggctaat
tttttgtatt tttagtagag acagggtttc actatgttag ccaggatggt ctccatctcc
tgacctcgtg atctgctggc ctcagcttcc caaagtgctg ggattacagg cgtgagccac
cacgcccagc ctagtgtctg tattttttgt agaaataggg tcttgctatg ttgtgcaggt
tggtctcaaa ctcctaaacc caaaggatct cctgcctcgg ctttgcagag ttctaggatt
acacgcacaa ggcaccatgc ccgcccctct tttcttcttt ttatacttca ttttgtaaaa
tttttccagg gtggctgggc acggtagctc atgcctataa tcccagcact ttgggaggct
gaggcagtgg atagcttgag gacaggtgtt catggccaac atggcaaaat cccatctgaa
atgaaaatac aaaaattagc tgggtgtggt ggtgcacgcc tgtaatccca gctacttggg
aagctgaggt acgagaatca cttgaaccca ggagtcagag gttgcagaga cccaagattg
tgccactgca ctccagcctg ggagacagag taacactctg tttcaaaaaa aaaaaatttc
caaggtggat attatttcac atttcatatt tcctgtacaa tgtgatttgt ccttgaggat
tttctatttt attttctaag taaagttagt tttaataagg actaatgttt attgtgccaa
agacaaaatt acaacaaatt taacgatctc gactggattc cttccttcct gccttccttc
cttcttttct cctcttccct cccctcccct ctcttctctt ttttctttct ttccctccct
ccctccctcc ctcccttcct cccttcctcc cttcctttct ttctttcgac ggagtcttgc
tctttcaccc aggctggagc acagtggctt gatcttggct cactgcaaac cccgcctcct
gggttcaagc gattctcctg cctcagcctc ccgagtacct gggattacag acgcacacca
ccatgcctgg ctgatttttg tatttttagt caagacgggg ttttaccatg ttggccaggc
ttgtcccaaa ctcctgacct caggtgattc acccgcctcg gcctcccaaa gtcctgagat
tacaggcatg agccaccatg cccggccctg attgggcttt ttctacaaaa aattcttgtg
aaacttttct gcaatatttt ataataaagt cctactgatt tatatttgat tttatatttg
taagtcaggt gaaatgagtg aattcttcct tgtgtatgaa tgtactacat gttgcagaat
gtctaccttt cctgggctcc atccactaaa ttctcaaagt gcctcctaat cattgtctct
attaaagatg ccccacaaat ttccaaaatg cccctagggt gtgcctgaga gccactaccc
taggtgcctc tcttcaaaca cctaggcctc actgcagtgg ccaatagggg catactaggt
ggccacaatc acgttcctct gtcccctttg tatagcactt gaaaaagagt ttgctaaggc
ctggtacggt ggctcatgcc tgtaacccca tcattttaag aagctgagac aagaggatcc
cttgaggcca ggagttcaag accagcctgg gcaacataga gagactccgt ctttacaaat
atatatatat atttatttat ttatttttat tttttttggt agaaaagggg tctccagtgg
ccgggcgcag tggctcatgc ctgtaatccc agcactttgg gaagctgagg cgggcagatc
acgaggtcag gagatggaga ccatcctgga taacacagtg aaaccctgtc tctactaaac
cccatctcta ttaaaaatac aaaaaattag ccgggcatgg tggtgggcac ctgtaatcct
agctactcgg gaatctgagg caggagaatc gtttgaaccc gaggtggatg ttgcagtgag
ccgagacgcg ccactgcact ccagcctgag tgacagagca agactctgac tcagaaaaac
aagcaaacaa aaaaagacag ctatatacct agggaagaca taaatataag tgaaaagcag
aagtacaaaa atagttcggc tgacccagca gcaattttga tcccatccca gcaagacctg
tcttggagtg taggtctggc tcagatagca aactccagcc ctttcacact gacaggtatc
atatcacagg ctcctaggtc tttaggtccc atggagagtg ccactcccag ttccactgtt
agttacttct atggtctgtg ttcaagtcaa ataaagacat ttgttcattc catgcacagc
acagagtagg tgctcaaaaa agtacttttt atacagatga atgaacaact actaccagtt
aacctagaac ctgtcctttc agctctagtt tttaattgta attttatttt attttagaga
cagggtcttg gcacaatcac aattcactgc agctttgacc tctcaggctc aattggatcc
tcccacctca gcctccatag tagctgggac tacaggtaca tgccaccatg cccaactaat
ttttgaaatt tatttttaga gatggggtct tgctatgttg cccaggctgg tctcgaattc
ctgaggtcaa gcaatccacc tgcctcagcc tcccaaggtg ctgggattat aggcgtgagc
catcactcac ctctagtttc tggcctgagg gtatattact ctccctgatt actgacacca
aaaatgattt cactcttggg tgggacctct gctgcccctt acccactagg gtgtgggttt
ttttggtttg tttttgtctt ttttaagaca gggcctcaca ctgtcatcca ggctggaatg
caatggtgtg atcctggctc actgcagcct cgaccacctg ggctcaaggg atcctcccac
cttagcctcc tgagtagctg ggaccagaag tgcacaccac cacaccaagc taatttttta
actttttata gaaacaggtt gcctagactg gtatcgaact cctgagctca agcaatcctc
ttgccttggt ttcccaaagt gctggaatta caggcgtgag ccactgagtc tgaccttagg
gtgtggtttt accattggat tcatgtgatt taccaatgct tcaacagtaa ccacaacatt
caatgtacag cccagtgcag atggaaggtc cttgtacctc atgatctctt ccaatttttc
gcaagataat agtcagtctt tcatgagtgc ttattacatg cactagcctg acaactctac
attacagata agaaaattaa gacttagagg ccagacgcga tggctcacac ctgtaatccc
aacactttgg gaggccgaag cgggcggatc acaaggttag gagatcgaga ccatcctggc
taacacggtg aaaccccgtc tctactaaaa atacaaaaat ttagccaggc gtggcggtgt
gcgactgtag tccccgctac tcgggtggct gaggcaggag gatggcgtga acccgggagg
cggagcttgc agtgagccaa gatcgtgcca ctgcactcca gcctgggtga cagagcgaga
ctccatctca aaaaaaaaaa aaaagaaaag aaaactaaga cttagagaag ttaaatatgt
ggcagagtga agcctaagct catatctgtc ctaatctaaa ttccaagcag ttctgagtca
tcaggtcaca cagactgctt ctcacatgct tcaggaatgc cttttcagtc ttccttaaag
gttgcaaaca gttgcaaagc aaatttcatg gttcctgttt cttcaaaatc tcaaagctct
tcattcagcc aggcatggtc gctggagcgt gtatattcaa ccacttgaga agatgaggat
cttttgagcc caggagtttg agacgaacct gggcaacata gggaaagccc tgtcacctaa
aaaaataaat aatacaacca gctcttcatt tagaggcaag cacaaaatag gtgctcaatg
tttgttgaat gagtgagttg ttaccaacca taccccacta ttcaaggtcc tgcttgtcag
tgtttcagga agtgttcttg gcaaaggagt ggtgaacttc aggaagaatg atgctgactc
cgaacacaat tatttattta tttatttatt tatttattta tttatttatt tacttattga
gacagagtct cgctctgtag cccaggctgg agtgcaatga cgtgatctcc gctcactgca
acctctgcct cccaggttca agcaattctc ctgcttcagc ctcccaagta gctgggatta
caggcgcccg ccactacgat cggagaatgt tttgtatttt tagtagagac agggtttcgc
catgttggac aggctggtct caaacacctg acctcatgtg atccacccac ctcggcctcc
caaactgctg agattacagg cttgagccag tgtgcccagc ctgaacacaa ttattaaagt
caaagtgaga cctaacagtg gaactttggt tgcggctaca ggaaatatgg attcaaatac
tgaacaccag ctgggcacag tggctcacgc ctacaatcct agcactttgg gaggctaagg
taggaggaca gcagagccca agagttcgag acaaacctgg ccaacatggt aaaacgaaaa
aattaaccag gcatggtgat gcacacctgt agtctcagct gaggtgggag gatcgcctga
attgaggtag tggaggctgc agtgagctgt gttcctgcca cagcactcca gcctgagcaa
cagagcaaga ccttgtctct aaataaataa acacaacaaa aataaaacaa atactgagcc
aggtgtggtg gctcctgcct gtaatctcag cactttagga ggctgagatg ggcagatcac
ttgaagtcag gagttcgaga ccagcctgga caacatgatg aaatctctac taaaaataca
aaaattagct gggactgatg gcgctaatcc ctgctactca ggaggctgag gcagaattgc
ttgaacctgg aaggcggagg ctgcagtgag ccaagatcac ccccactgct ctgggttgca
gtgagccaag atcacaccac ctgggtgaca gagcaagact gcatctcaaa aaaaaaaaaa
gaaagagaaa agaaaagaaa gagagagaga gagaaggaag gaaagaaaga aagaaaaaga
aaaagaaaga aagaaagaaa gaggaagaaa gaaaaataaa agcatagaga gtgctggagc
agtgtgagtg agatggatag tggtaaaagg tgaccttgga aaaggaaatt gggaggccag
attgtgtagg gtcttggtgg ccatggtaag gagtctgaat tttgttctaa gatggaaatt
cactgtagag tttggtgctg ggaagtgaca agatcacatg tgtattttta agagatcact
ttgggtgctg tgtagaaatc agactgtagg agtcaagtgt ggagggagac cagcatccaa
ttacagcctg ccatgaactt gccaggttcc tcttcccttc cttcagcaca cactactctt
tcccaccgct tagcctagtt aacacttatt ctttcaaaat tagcccggat gtcactttct
ctaagaacaa ccgcgccccc tgccgcctcc ccacctcaca cacctcctct aacgcaaact
catagccctc acaacttctt tgtcactttt tctccccctt tttttgagac aggatctcgc
tctattcccc aggctggtct cgaactcctg ggctcaaaag atcctcccgc ctcagccacc
cgaatagctc ctttgtcgct cttatcactg ttgtgattaa ttgtacaaat ggcttaatgg
cagttatagc gcccagctca tcaaaggcag tggcctgcca atcgtcagcg ggcagggcag
ggaccagtcc agtccatcct ggctcccatg tgcagcccca gtgcgcatcg cgacaccggc
gctcgttgcc gcgctccgtg aacgtttgtc acatgtccga agaatgaatg aattatatac
ctttcttccc actccagccc tcaaaaagca agtggataca aagacttgaa gattttataa
tcgcttcatt agtaaaattt gaccatcctt accattaaaa ataatgataa tgatgaaaaa
ggctaagtgc gaacgccggg aggggagagc taaaattcaa agggcgaaat atttataatg
cctaccgtcg gcgaagagaa acagcagccc caaccgaagg caaaaggaaa tcccaccgca
gcctccaaag gcgcgtgggc gggactggag aatggggccc cgcgcactag gcgcggaagt
caagaagcag ccccaccacc cgtgccgcga gaaaagcagc cctggggagg cggggcgggg
cctcacttgg aaaagagacg gtcactcatc cagaggcggg actcagagcc cctccacaag
tctcattggt ccatttgaag acggacaact ctccctgacc atccgtagca cagatggggc
gcaagcgtat tggaaaggga gcgggtgcca gacgcgagaa ctacgcatgc gtctcagcgc
tttcccgcca gcacaccctt agtgggtggg gggggcgatt gaattcccac agtgagtcca
gcccaccgaa gctcagagga ttcctaacct tcctcttcag agagcctcag gttagggaac
gtccagtgcc caaaagctgc cctgtgggaa tcccattgtc caccgcctct tacctaatgt
ttcgttctgg ccttgcccca tctcttcctg aggctgggtt gttacgatgg tgaattattc
aagatgtctt gcagcctgac gccatctctg ggcagtgctc ctgcatcctc cctgtcttcc
ttgggagggc accacgttgc tcttacaagc acagggtcct gaaactgttt acaaggcccc
actctgccac gttagtatct taacgagtgt ttgttgagga agcactgtgt gttagaccca
gtgcaatgag caagtccctg atcttgtgac cttacattct acaggacgac acaaacgtat
aaacaaaaaa taattttaga tagtgataca tgcttaaaac atggctatgt ggccgggagc
agtggctcac gcctgtaaat ccaacattgt gggaggctga ggcaggtgga tcacttgagg
tcaaggagtt cgagaccagc ctggctaaca tggcaaaacc ccgtctctac tgaaaataca
aaacttagtc aggcgtgatg gcagacacct gtaatcccag ctactcggga agctgaggca
ggagaatcgc ttgaacgcag gagatggaag tttgcagtga gcccagatca caccactgca
ctccagcctg ggtgagagag ccagactgta tctcaaaaaa aaataaaata aaataaaata
aagctatgtg atagaatgac tgcgatgggg attaggtcct cactgaaatg gtgagagtgg
agttaaaacc tgaaattagg tgacagcacc agatatatct gcccgagggt ttcgtgcttg
gaaaatagca ggtgcaaacg tccttgtgct gtgaggaaat ttggctggaa cagaaggtgg
gccagattgt agctgaccat agtctctgag agcttggaga tgattctaaa tacaatggga
agccattaaa ttgaggcaga gccttgatgt gacgtgcttt atcatcattt tgctgagtgg
agaatggatt gctgggaaaa gtgaaagatt gattcagagg ttgtggagag agggtggctg
gaactaggta gctggggagg tggtgggacg tggatgaatt caagatagga ttggttgtgt
tggatatggg aaaagaagtc accatggttc ctgggctttt ggaatgtgca aatgggtaat
ggaggtgcca ttgagatggg aacagtggaa aaataaccgg tgctggggtg ggaatgaaga
gctcagttgt gtggccgggc gcagtgactc acgcctgtaa ttccagcact ttgggaggcc
gaggcagggg gatcacctga ggtcaggatt tgcagaccag cctggtcaat atggcaacac
cctgtctcta ctaaaaatac aaaaacatta gccgggtagc ggggcctata atcccatggg
Biology
Proteins are by far the most complex macromolecules. They do just about everything in our body, from catalyzing chemical reactions to transporting nutrients to forming the body's structures. Proteins are made up of combinations of the 20 amino acids. Each amino acid consists of a carbon atom (known as the α-carbon) bonded to a hydrogen, a carboxyl group (COOH), an amino group (NH2), and a unique side chain. A chain of amino acids is called a polypeptide chain.
|
Protein synthesis begins with DNA, the genetic code that directs all cellular activity. This macromolecule consists of a sugar-phosphate backbone bound to pairs of nucleotides (adenine, guanine, cytosine, and thymine) called base pairs. It is stored in the nucleus, the brain of the cell. To initiate the first step of protein synthesis, transcription, the base pairs on the DNA strand are separated by the enzyme RNA polymerase. When the enzyme separates the pairs, free floating nucleotides bond to the DNA, forming messenger RNA (mRNA), a single backbone nucleic acid with the nucleotides adenine, cytosine, guanine, and uracil. When this process is finished, the mRNA floats out of the nucleus into the cytoplasm, the fluid filling the cell.
|
The mRNA contains regions called exons, which are used in synthesizing the protein, and introns, which are extraneous to the process. In the cytoplasm, the introns are removed from the mRNA, preparing it for translation. After this, ribosomal subunits attach to the mRNA. The ribosome reads the bases on the mRNA in sets of three, called codons. Transfer RNA (tRNA), which carries the amino acids necessary for protein synthesis, enter the ribosome at the acceptance site. Each tRNA molecule contains an anticodon, a set of three nucleotides complementary to a codon on the mRNA. As the ribosome moves along the mRNA strand, the tRNA molecules deliver their amino acids to a forming polypeptide chain. Every one of these chains starts with a methionine molecule, marked on mRNA with the codon AUG. When the ribosome reaches a stop codon (UAA, UAG, or UGA), the polypeptide chain, the mRNA, and the ribosomal subunits all detach from one another.
|
Once the polypeptide chain is released, it starts to contort, beginning the folding phase of protein synthesis. As the chain passes through the endoplasmic reticulum and the Golgi apparatus, it folds into its final shape. It begins by forming α-helices and β-sheets, known as the secondary structures. These then combine to form domains (tertiary structures) and the final protein (the quaternary structure).
|
Reflection
This project went very well. One reason for this was that the group communicated well. For example, while two of us were out filming, we knew the others were researching the disease and creating the video. Another reason is that the whole group had excellent work ethic. Everyone was working on the project for nearly the entire class every day.
Although the project went smoothly, there are still some things I need to work on. For one, my time managements skills proved to be inadequate in this project. Despite creating a Gantt chart on the first day, we worked up until the last minute to prepare for our presentation. While I have improved, I still need to work on preparing for presentations. Despite the minimal amount of talking in this presentation, I felt that the group as a whole was unprepared to present.
Although the project went smoothly, there are still some things I need to work on. For one, my time managements skills proved to be inadequate in this project. Despite creating a Gantt chart on the first day, we worked up until the last minute to prepare for our presentation. While I have improved, I still need to work on preparing for presentations. Despite the minimal amount of talking in this presentation, I felt that the group as a whole was unprepared to present.
I worked on this project with Bryce Bernales, Rachel Lobl, and Robert Orta.