wild type allele TSS agouti Wild-type expression Agouti dominant negative copy number variant loss of function viable yellow allele TSS Ectopic expression TSS IAP H gap 99⁹9⁹99 unmethylated CG sites The Agouti gene is a determinant of coat color in furry mammals such mice. The wild type allele is expressed in the skin in a pattern that leads to the production "agouti" fur (left drawing, above). The viable yellow allele has an insertion (IAP) upstream of the normal transcription start site (TSS). Depending on the methylation status of multiple CG dinucleotides within IAP, this insertion can initiate transcription from an abnormal location near the insertion site, with transcription reading through the Agouti gene at an elevated level and causing the production of yellow fur (right drawing, above). Drawing adapted from Paro et al. Introduction to Epigenetics, Springer, 2021. This is background information for questions 18 through 23. Wild-type expression Agouti Which of the following classifiers of mutation type would you assign to the viable yellow allele with unmethylated CG sites in IAP? Yellow

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wild type allele
TSS
gap
agouti
dominant negative
Wild-type expression
Agouti
copy number variant
loss of function
99999 unmethylated CG sites
The Agouti gene is a determinant of coat color in furry mammals such mice. The
wild type allele is expressed in the skin in a pattern that leads to the production
"agouti" fur (left drawing, above). The viable yellow allele has an insertion (IAP)
upstream of the normal transcription start site (TSS). Depending on the
methylation status of multiple CG dinucleotides within IAP, this insertion can
initiate transcription from an abnormal location near the insertion site, with
transcription reading through the Agouti gene at an elevated level and causing
the production of yellow fur (right drawing, above). Drawing adapted from Paro
et al. Introduction to Epigenetics, Springer, 2021. This is background information
for questions 18 through 23.
gain of function
viable yellow allele
TSS
Ectopic expression
TSS
IAP
Which of the following classifiers of mutation type would you assign to the
viable yellow allele with unmethylated CG sites in IAP?
Wild-type expression
Agouti
Yellow
Transcribed Image Text:wild type allele TSS gap agouti dominant negative Wild-type expression Agouti copy number variant loss of function 99999 unmethylated CG sites The Agouti gene is a determinant of coat color in furry mammals such mice. The wild type allele is expressed in the skin in a pattern that leads to the production "agouti" fur (left drawing, above). The viable yellow allele has an insertion (IAP) upstream of the normal transcription start site (TSS). Depending on the methylation status of multiple CG dinucleotides within IAP, this insertion can initiate transcription from an abnormal location near the insertion site, with transcription reading through the Agouti gene at an elevated level and causing the production of yellow fur (right drawing, above). Drawing adapted from Paro et al. Introduction to Epigenetics, Springer, 2021. This is background information for questions 18 through 23. gain of function viable yellow allele TSS Ectopic expression TSS IAP Which of the following classifiers of mutation type would you assign to the viable yellow allele with unmethylated CG sites in IAP? Wild-type expression Agouti Yellow
What fur color do you expect to observe in a heterozygote that has one wild
type allele and one viable yellow allele with unmethylated CG sites in IAP?
Yellow
Agouti
Transcribed Image Text:What fur color do you expect to observe in a heterozygote that has one wild type allele and one viable yellow allele with unmethylated CG sites in IAP? Yellow Agouti
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