Read the images given before answering the question below. Identify the two common diseases that result from mutations in gene A?

Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
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Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Read the images given before answering the question below. Identify the two common diseases that result from mutations in gene A?
Most eukaryotic genes are composed of both exons (regions represented in the MRNA
derived from the gene) and introns (regions that are transcribed initially, but are absent
from the MRNA). Furthermore, not all the nucleotides in an MRNA are translated into
protein. Thus, gene sequences need careful analysis and annotation to identify their
functional regions. In this part of the assignment, DNA databases and other online
resources will be used to find the identity of a human gene (designated gene A), and
determine its intron-exon structure and the properties of the protein it encoded. One
main aim will be to produce an annotated sequence for gene A of a standard suitable
for publication in a scientific paper, similar to the example below (Fig. 2.) which shows
the entire region of the Human metallothionein 2A gene that is transcribed into RNA.
CTTGCCGCGCTGCACTCCACCACGCCTCCTCCAAGTCCCAGCGAACCCGCGTGCAACCTG
MD PN C sCA A
TCCCGACTCTAGCCGCCTCTTCAGCTCGCCATGGATCCCAACTGCTCCTGCGCCGCCGgt
aagaggetggggatgcccagtgtagactgtagcgctagagaagcaatttctgacccctct
ttctttctctggtcactcaatttcaggacaggagttgctcctteccaaagagttttgggg
tatctttctctccattctaggttattcggagccccctttttaccgttaaggagatctgag
ttaatggcttgctcaagttcccaggaatcggttgtggactgaggaactcggccccgggct
cttagtacgccgtcccttgttcaggtatccagggacggttctcacctctgtettttctcc
GD S Cт сAG S скск вскс т
ttgcagGTGACTCCTGCACCTGCGCCGGCTCCTGCAAATGCAAAGAGTGCAAATGCACCT
s CK K
CCTGCAAGAAAAgtaagtgggatcctetctttectctaccccttccctgtcctccagcct
gtcccctctccaccatcctcaggggaattaaagcagtctggggatgccccattgcgcgga
aattgttgcctcctcagtgatccttatcagggagagcaggaatccttattcccggtgtcg
sc c s c C P v
ctagtactcatctctgccgcctcctgtctgcccccagGCTGCTGCTCcCTGCTGCCCTGTG
G C AK C A Q G C I C K G AS D Kc s c
GGCTGTGCCAAGTGTGCCCAGGGCTGCATCTGCAAAGGGGCGTCGGACAAGTGCAGCTGC
CA
TGCGCCTGATGCTGGGACAGCCCCGCTCCCAGATGTAAAGAACGCGACTTCCACAAACCT
GGATTTTTTATGTACAACCCTGACCGTGACCGTTTGCTATATTCCTTTTTCTATGAAATA
ATGTGAATGATAATAAAACAGCTTTGACTTGA
Figure 2. The Human metallothionein 2A gene. Exon sequences are in upper case,
intron sequences in lower case. The predicted amino acid sequence is shown above
the corresponding nucleotide sequence, * represents a termination codon.
Transcribed Image Text:Most eukaryotic genes are composed of both exons (regions represented in the MRNA derived from the gene) and introns (regions that are transcribed initially, but are absent from the MRNA). Furthermore, not all the nucleotides in an MRNA are translated into protein. Thus, gene sequences need careful analysis and annotation to identify their functional regions. In this part of the assignment, DNA databases and other online resources will be used to find the identity of a human gene (designated gene A), and determine its intron-exon structure and the properties of the protein it encoded. One main aim will be to produce an annotated sequence for gene A of a standard suitable for publication in a scientific paper, similar to the example below (Fig. 2.) which shows the entire region of the Human metallothionein 2A gene that is transcribed into RNA. CTTGCCGCGCTGCACTCCACCACGCCTCCTCCAAGTCCCAGCGAACCCGCGTGCAACCTG MD PN C sCA A TCCCGACTCTAGCCGCCTCTTCAGCTCGCCATGGATCCCAACTGCTCCTGCGCCGCCGgt aagaggetggggatgcccagtgtagactgtagcgctagagaagcaatttctgacccctct ttctttctctggtcactcaatttcaggacaggagttgctcctteccaaagagttttgggg tatctttctctccattctaggttattcggagccccctttttaccgttaaggagatctgag ttaatggcttgctcaagttcccaggaatcggttgtggactgaggaactcggccccgggct cttagtacgccgtcccttgttcaggtatccagggacggttctcacctctgtettttctcc GD S Cт сAG S скск вскс т ttgcagGTGACTCCTGCACCTGCGCCGGCTCCTGCAAATGCAAAGAGTGCAAATGCACCT s CK K CCTGCAAGAAAAgtaagtgggatcctetctttectctaccccttccctgtcctccagcct gtcccctctccaccatcctcaggggaattaaagcagtctggggatgccccattgcgcgga aattgttgcctcctcagtgatccttatcagggagagcaggaatccttattcccggtgtcg sc c s c C P v ctagtactcatctctgccgcctcctgtctgcccccagGCTGCTGCTCcCTGCTGCCCTGTG G C AK C A Q G C I C K G AS D Kc s c GGCTGTGCCAAGTGTGCCCAGGGCTGCATCTGCAAAGGGGCGTCGGACAAGTGCAGCTGC CA TGCGCCTGATGCTGGGACAGCCCCGCTCCCAGATGTAAAGAACGCGACTTCCACAAACCT GGATTTTTTATGTACAACCCTGACCGTGACCGTTTGCTATATTCCTTTTTCTATGAAATA ATGTGAATGATAATAAAACAGCTTTGACTTGA Figure 2. The Human metallothionein 2A gene. Exon sequences are in upper case, intron sequences in lower case. The predicted amino acid sequence is shown above the corresponding nucleotide sequence, * represents a termination codon.
The assignment involves analysis of the DNA sequences shown below. Both are
derived from gene A. The first sequence is the entire transcribed region of the
chromosomal DNA of the gene (only the coding strand is shown), the second (also
showing the coding strand) is that of the corresponding CDNA. NB the sequences are
shown in the "FASTA" format, which is used by many bioinformatics applications.
FASTA-formatted sequences have a > symbol followed by a little text and a paragraph
break before the actual nucleotide sequence).
Chromosomal DNA sequence from gene A
>chromosomal
ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAG
GAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAG
GTTGGTATCAAGGTTACAAGACAGGTTTAAGGAGACCAATAGAAACTGGGCATGTGGAGACAGAGAAGACT
CTTGGGTTTCTGATAGGCACTGACTCTCTCTGCCTATTGGTCTATTTTCCCACCCTTAGGCTGCTGGTGGT
CTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACC
CTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTC
AAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGGT
GAGTCTATGGGACGCTTGATGTTTTCTTTCCCCTTCTTTTCTATGGTTAAGTTCATGTCATAGGAAGGGGA
TAAGTAACAGGGTACAGTTTAGAATGGGAAACAGACGAATGATTGCATCAGTGTGGAAGTCTCAGGATCGT
TTTAGTTTCTTTTATTTGCTGTTCATAACAATTGTTTTCTTTTGTTTAATTCTTGCTTTCTTTTTTTTTCT
TCTCCGCAATTTTTACTATTATACTTAATGCCTTAACATTGTGTATAACAAAAGGAAATATCTCTGAGATA
CATTAAGTAACTTAAAAAAAAACTTTACACAGTCTGCCTAGTACATTACTATTTGGAATATATGTGTGCTT
ATTTGCATATTCATAATCTCCCTACTTTATTTTCTTTTATTTTTAATTGATACATAATCATTATACATATT
TATGGGTTAAAGTGTAATGTTTTAATATGTGTACACATATTGACCAAATCAGGGTAATTTTGCATTTGTAA
TTTTAAAAAATGCTTTCTTCTTTTAATATACTTTTTTGTTTATCTTATTTCTAATACTTTCCCTAATCTCT
ттстттCAGGGCААTAАTGATACAАTGTATCATGCCтстттсCACCATTсТААAGAATAACAGTGATAATT
TCTGGGTTAAGGCAATAGCAATATCTCTGCATATAAATATTTCTGCATATAAATTGTAACTGATGTAAGAG
GTTTCATATTGCTAATAGCAGCTACAATCCAGCTACCATTCTGCTTTTATTTTATGGTTGGGATAAGGCTG
GATTATTCTGAGTCCAAGCTAGGCCCTTTTGCTAATCATGTTCATACCTCTTATCTTCCTCCCACAGCTCC
TGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCC
TATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGT
ССААТТТСТАТТАAAGGTTCCTTTGTTCCCTAAGTCСAАСТАСТАААСТGGGGGATATTATGAAGGGCCTT
GAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCAA
CDNA sequence from gene A
>CDNA
ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACcCATGGTGCATCTGACTCCTGAG
GAGAAGTCTGCCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAG
GCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTG
TTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCAC
CTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGA
GAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCAC
CAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCT
CGCTTTCTTGCCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATA
TTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCAA
Transcribed Image Text:The assignment involves analysis of the DNA sequences shown below. Both are derived from gene A. The first sequence is the entire transcribed region of the chromosomal DNA of the gene (only the coding strand is shown), the second (also showing the coding strand) is that of the corresponding CDNA. NB the sequences are shown in the "FASTA" format, which is used by many bioinformatics applications. FASTA-formatted sequences have a > symbol followed by a little text and a paragraph break before the actual nucleotide sequence). Chromosomal DNA sequence from gene A >chromosomal ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAG GAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAG GTTGGTATCAAGGTTACAAGACAGGTTTAAGGAGACCAATAGAAACTGGGCATGTGGAGACAGAGAAGACT CTTGGGTTTCTGATAGGCACTGACTCTCTCTGCCTATTGGTCTATTTTCCCACCCTTAGGCTGCTGGTGGT CTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACC CTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTC AAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGGT GAGTCTATGGGACGCTTGATGTTTTCTTTCCCCTTCTTTTCTATGGTTAAGTTCATGTCATAGGAAGGGGA TAAGTAACAGGGTACAGTTTAGAATGGGAAACAGACGAATGATTGCATCAGTGTGGAAGTCTCAGGATCGT TTTAGTTTCTTTTATTTGCTGTTCATAACAATTGTTTTCTTTTGTTTAATTCTTGCTTTCTTTTTTTTTCT TCTCCGCAATTTTTACTATTATACTTAATGCCTTAACATTGTGTATAACAAAAGGAAATATCTCTGAGATA CATTAAGTAACTTAAAAAAAAACTTTACACAGTCTGCCTAGTACATTACTATTTGGAATATATGTGTGCTT ATTTGCATATTCATAATCTCCCTACTTTATTTTCTTTTATTTTTAATTGATACATAATCATTATACATATT TATGGGTTAAAGTGTAATGTTTTAATATGTGTACACATATTGACCAAATCAGGGTAATTTTGCATTTGTAA TTTTAAAAAATGCTTTCTTCTTTTAATATACTTTTTTGTTTATCTTATTTCTAATACTTTCCCTAATCTCT ттстттCAGGGCААTAАTGATACAАTGTATCATGCCтстттсCACCATTсТААAGAATAACAGTGATAATT TCTGGGTTAAGGCAATAGCAATATCTCTGCATATAAATATTTCTGCATATAAATTGTAACTGATGTAAGAG GTTTCATATTGCTAATAGCAGCTACAATCCAGCTACCATTCTGCTTTTATTTTATGGTTGGGATAAGGCTG GATTATTCTGAGTCCAAGCTAGGCCCTTTTGCTAATCATGTTCATACCTCTTATCTTCCTCCCACAGCTCC TGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCC TATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGT ССААТТТСТАТТАAAGGTTCCTTTGTTCCCTAAGTCСAАСТАСТАААСТGGGGGATATTATGAAGGGCCTT GAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCAA CDNA sequence from gene A >CDNA ACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACcCATGGTGCATCTGACTCCTGAG GAGAAGTCTGCCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAG GCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTG TTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCAC CTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGA GAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCAC CAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCT CGCTTTCTTGCCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATA TTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCAA
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