What is the simplest explanation for why patients have been identified with only one copy of the phosphofructokinase-1 gene (heterozygous), but no patients have been identified that lack both copies of the phosphofructokinase-1 gene (homozygous)? Patients lacking both copies of the phosphofructokinase-1 genes will be found once DNA sequencing technology can sequence whole genomes. Phosphofructokinase-1 is needed for nitrogen metabolism and there are no enzymes to replace this function, so cells die from ammonia toxicity. O Phosphofructokinase-1 is a required enzyme for carbohydrate metabolism in all living cells, complete loss of this enzyme would be lethal. There are 6 phosphofructokinase-1 paralogous genes in humans and it is impossible to lack both type 1 copies when there are also types 4, 5, and 6.

Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
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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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What is the simplest explanation for why patients have been identified with
only one copy of the phosphofructokinase-1 gene (heterozygous), but no
patients have been identified that lack both copies of the
phosphofructokinase-1 gene (homozygous)?
Patients lacking both copies of the phosphofructokinase-1 genes will be
found once DNA sequencing technology can sequence whole genomes.
Phosphofructokinase-1 is needed for nitrogen metabolism and there are
no enzymes to replace this function, so cells die from ammonia toxicity.
Phosphofructokinase-1 is a required enzyme for carbohydrate
metabolism in all living cells, complete loss of this enzyme would be
lethal.
There are 6 phosphofructokinase-1 paralogous genes in humans and it is
impossible to lack both type 1 copies when there are also types 4, 5, and
6.
Transcribed Image Text:What is the simplest explanation for why patients have been identified with only one copy of the phosphofructokinase-1 gene (heterozygous), but no patients have been identified that lack both copies of the phosphofructokinase-1 gene (homozygous)? Patients lacking both copies of the phosphofructokinase-1 genes will be found once DNA sequencing technology can sequence whole genomes. Phosphofructokinase-1 is needed for nitrogen metabolism and there are no enzymes to replace this function, so cells die from ammonia toxicity. Phosphofructokinase-1 is a required enzyme for carbohydrate metabolism in all living cells, complete loss of this enzyme would be lethal. There are 6 phosphofructokinase-1 paralogous genes in humans and it is impossible to lack both type 1 copies when there are also types 4, 5, and 6.
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