Nonsense mutation Missense mutation The most likely of these 5 to be a leaky loss of function mutation Gain of function The most likely of these 5 to cause an anormal phenotype in heterozygotes with one copy of the mutant allele and one wild type allele [Choose ] [Choose ] ✓ [Choose ] 3 2 5 4 1 [Choose ]

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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Nonsense mutation
Missense mutation
The most likely of these 5 to be
leaky loss of function mutation
Gain of function
The most likely of these 5 to cause
an anormal phenotype in
heterozygotes with one copy of the
mutant allele and one wild type
allele
[Choose ]
[Choose ]
✓ [Choose ]
4
1
[Choose ]
Transcribed Image Text:Nonsense mutation Missense mutation The most likely of these 5 to be leaky loss of function mutation Gain of function The most likely of these 5 to cause an anormal phenotype in heterozygotes with one copy of the mutant allele and one wild type allele [Choose ] [Choose ] ✓ [Choose ] 4 1 [Choose ]
Many "hedgehog" mutants have been recovered in Drosophila melanogaster,
which have a phenotype reminiscent of the spiky animal. The hedgehog gene is
an important regulator of embryonic development and its human homolog is
perturbed in some cancers. A wide variety of mutations have been identified via
sequencing of mutant alleles. Five of these are described here:
1. hhºK: a point mutation changing amino acid 109 from proline to leucine
2. hh¹³C: a point mutation changing a tryptophan codon in the middle of the
coding region to a stop codon
3. hhHL2: a two nucleotide deletion in an exon located in the middle of the
coding region
4. hh Moonrat: a 24 bp deletion in an enhancer regulating the expression of the
gene causing it to be expressed in embryonic cells that normally do not express
hedgehog
5. hhGW1: inversion of a portion of the coding region
Frameshift mutation
Nonsense mutation
Missense mutation
The most likely of these 5 to be a
Joalaylocs of fu action
tion
[Choose ]
3
2
5
4
1
[Choose ]
[Choose ]
Transcribed Image Text:Many "hedgehog" mutants have been recovered in Drosophila melanogaster, which have a phenotype reminiscent of the spiky animal. The hedgehog gene is an important regulator of embryonic development and its human homolog is perturbed in some cancers. A wide variety of mutations have been identified via sequencing of mutant alleles. Five of these are described here: 1. hhºK: a point mutation changing amino acid 109 from proline to leucine 2. hh¹³C: a point mutation changing a tryptophan codon in the middle of the coding region to a stop codon 3. hhHL2: a two nucleotide deletion in an exon located in the middle of the coding region 4. hh Moonrat: a 24 bp deletion in an enhancer regulating the expression of the gene causing it to be expressed in embryonic cells that normally do not express hedgehog 5. hhGW1: inversion of a portion of the coding region Frameshift mutation Nonsense mutation Missense mutation The most likely of these 5 to be a Joalaylocs of fu action tion [Choose ] 3 2 5 4 1 [Choose ] [Choose ]
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