You are studying a patient with familial hypercholesterolemia. After performing a biopsy to obtain liver cells. Using primers around the gene for the LDL receptor, you PCR this gene and sequence it. You find that it is the same as wild-type except for a point mutation changing a Tyr to a Phe. You also determine that the LDL binding site on the receptor is intact. Meanwhile, you witness a crime and are forced into the Witness Protection Agency. Before you go, what do you tell your assistant is your best guess as to the cause of your patient’s condition? fill-in the sentence by choosing of the bolded options The mutated ("tyrosine", "phenylalanine) esidue was probably a part of the YXX_ (where X is anything and _ is a [bulky hydrophobic] amino acid) in the (termination", "cytosolic", "vesicular") domain of the LDL-R. This sequence interacts with the _2 subunit of the ("GGA1", "AP181", "AP2") assembly particle and is responsible for clathrin-mediated internalization of the LDL-R bound to LDL.
You are studying a patient with familial hypercholesterolemia. After performing a biopsy to obtain liver cells. Using primers around the gene for the LDL receptor, you PCR this gene and sequence it. You find that it is the same as wild-type except for a point mutation changing a Tyr to a Phe. You also determine that the LDL binding site on the receptor is intact. Meanwhile, you witness a crime and are forced into the Witness Protection Agency. Before you go, what do you tell your assistant is your best guess as to the cause of your patient’s condition? fill-in the sentence by choosing of the bolded options
The mutated ("tyrosine", "phenylalanine) esidue was probably a part of the YXX_ (where X is anything and _ is a [bulky hydrophobic] amino acid) in the (termination", "cytosolic", "vesicular") domain of the LDL-R. This sequence interacts with the _2 subunit of the ("GGA1", "AP181", "AP2") assembly particle and is responsible for clathrin-mediated internalization of the LDL-R bound to LDL.
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