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As a new graduate student, you are tasked with studying patients with Pitt - Hopkins syndrome, caused by mutations in the basic helix -loop-helix transcription factor TCF4. Further, you know that TCF4 is a homodimer and that proper function requires dimerization, in addition to subsequent DNA binding. To begin your study, you sequence the TCF4 gene in your three patient cohort and identify several sequence variants. The TCF4 coding region and sites of mutations are shown here (lines between codons indicate the correct reading frame). classify each of these mutations on the coding sequence (1 mark each); most likely impact on the resultant protein (1 mark each); and how each might affect ability of TCF4 to influence transcription (1 mark each). Patient 1 mutation: Patient 1 protein: Patient 1 functional effect: Patient 2 mutation: Patient 2 protein: Patient 2 functional effect: Patient 3 mutation: Patient 3 protein: Patient 3 functional effect: Patient #3 Patient #3 CTA LAGT GGT Wild type sequence: ATT CTA AGT GGT Mutant sequence: ATT GCT AAG TGG Dimerization domain DNA binding domain Exon #: 1 2 3 4 5 6 7 8 9 10 11 12 13 Patient #1 Patient #2 Wild type sequence: TTT TGT |CACGTT Mutant sequence: TTT TGG CACGTT TTTGG|CACGTT Wild type sequence: CGG CCCTGGCGG Mutant sequence: CGG|CCCTGACGG

As a new graduate student, you are tasked with studying patients with Pitt - Hopkins syndrome, caused by mutations in the basic helix -loop-helix transcription factor TCF4. Further, you know that TCF4 is a homodimer and that proper function requires dimerization, in addition to subsequent DNA binding. To begin your study, you sequence the TCF4 gene in your three patient cohort and identify several sequence variants. The TCF4 coding region and sites of mutations are shown here (lines between codons indicate the correct reading frame). classify each of these mutations on the coding sequence (1 mark each); most likely impact on the resultant protein (1 mark each); and how each might affect ability of TCF4 to influence transcription (1 mark each). Patient 1 mutation: Patient 1 protein: Patient 1 functional effect: Patient 2 mutation: Patient 2 protein: Patient 2 functional effect: Patient 3 mutation: Patient 3 protein: Patient 3 functional effect: Patient #3 Patient #3 CTA LAGT GGT Wild type sequence: ATT CTA AGT GGT Mutant sequence: ATT GCT AAG TGG Dimerization domain DNA binding domain Exon #: 1 2 3 4 5 6 7 8 9 10 11 12 13 Patient #1 Patient #2 Wild type sequence: TTT TGT |CACGTT Mutant sequence: TTT TGG CACGTT TTTGG|CACGTT Wild type sequence: CGG CCCTGGCGG Mutant sequence: CGG|CCCTGACGG

Human Anatomy & Physiology (11th Edition)
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
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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As a new graduate student, you are tasked with studying patients with Pitt - Hopkins syndrome, caused by mutations in the basic helix -loop-helix transcription factor TCF4. Further, you know that TCF4 is a homodimer and that proper function requires dimerization, in addition to subsequent DNA binding. To begin your study, you sequence the TCF4 gene in your three patient cohort and identify several sequence variants. The TCF4 coding region and sites of mutations are shown here (lines between codons indicate the correct reading frame). classify each of these mutations on the coding sequence (1 mark each); most likely impact on the resultant protein (1 mark each); and how each might affect ability of TCF4 to influence transcription (1 mark each). Patient 1 mutation: Patient 1 protein: Patient 1 functional effect: Patient 2 mutation: Patient 2 protein: Patient 2 functional effect: Patient 3 mutation: Patient 3 protein: Patient 3 functional effect: Patient #3 Patient #3 CTA LAGT GGT Wild type sequence: ATT CTA AGT GGT Mutant sequence: ATT GCT AAG TGG Dimerization domain DNA binding domain Exon #: 1 2 3 4 5 6 7 8 9 10 11 12 13 Patient #1 Patient #2 Wild type sequence: TTT TGT |CACGTT Mutant sequence: TTT TGG CACGTT TTTGG|CACGTT Wild type sequence: CGG CCCTGGCGG Mutant sequence: CGG|CCCTGACGG
Transcribed Image Text:As a new graduate student, you are tasked with studying patients with Pitt - Hopkins syndrome, caused by mutations in the basic helix -loop-helix transcription factor TCF4. Further, you know that TCF4 is a homodimer and that proper function requires dimerization, in addition to subsequent DNA binding. To begin your study, you sequence the TCF4 gene in your three patient cohort and identify several sequence variants. The TCF4 coding region and sites of mutations are shown here (lines between codons indicate the correct reading frame). classify each of these mutations on the coding sequence (1 mark each); most likely impact on the resultant protein (1 mark each); and how each might affect ability of TCF4 to influence transcription (1 mark each). Patient 1 mutation: Patient 1 protein: Patient 1 functional effect: Patient 2 mutation: Patient 2 protein: Patient 2 functional effect: Patient 3 mutation: Patient 3 protein: Patient 3 functional effect: Patient #3 Patient #3 CTA LAGT GGT Wild type sequence: ATT CTA AGT GGT Mutant sequence: ATT GCT AAG TGG Dimerization domain DNA binding domain Exon #: 1 2 3 4 5 6 7 8 9 10 11 12 13 Patient #1 Patient #2 Wild type sequence: TTT TGT |CACGTT Mutant sequence: TTT TGG CACGTT TTTGG|CACGTT Wild type sequence: CGG CCCTGGCGG Mutant sequence: CGG|CCCTGACGG
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