Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN: 9780134580999
Author: Elaine N. Marieb, Katja N. Hoehn
Publisher: PEARSON
Bartleby Related Questions Icon

Related questions

bartleby

Concept explainers

Question
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.
expand button
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.
Expert Solution
Check Mark
Knowledge Booster
Background pattern image
Biology
Learn more about
Need a deep-dive on the concept behind this application? Look no further. Learn more about this topic, biology and related others by exploring similar questions and additional content below.
Similar questions
Recommended textbooks for you
Text book image
Human Anatomy & Physiology (11th Edition)
Biology
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:PEARSON
Text book image
Biology 2e
Biology
ISBN:9781947172517
Author:Matthew Douglas, Jung Choi, Mary Ann Clark
Publisher:OpenStax
Text book image
Anatomy & Physiology
Biology
ISBN:9781259398629
Author:McKinley, Michael P., O'loughlin, Valerie Dean, Bidle, Theresa Stouter
Publisher:Mcgraw Hill Education,
Text book image
Molecular Biology of the Cell (Sixth Edition)
Biology
ISBN:9780815344322
Author:Bruce Alberts, Alexander D. Johnson, Julian Lewis, David Morgan, Martin Raff, Keith Roberts, Peter Walter
Publisher:W. W. Norton & Company
Text book image
Laboratory Manual For Human Anatomy & Physiology
Biology
ISBN:9781260159363
Author:Martin, Terry R., Prentice-craver, Cynthia
Publisher:McGraw-Hill Publishing Co.
Text book image
Inquiry Into Life (16th Edition)
Biology
ISBN:9781260231700
Author:Sylvia S. Mader, Michael Windelspecht
Publisher:McGraw Hill Education