DHCR7 (7-dehydrocholesterol reductase) gene.

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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Wassif et al. created a mouse knockout of DHCR7 (7-dehydrocholesterol reductase) gene.
A.) Which disease or medical problem did Wassif et al. want to tackle with this mouse knockout? (If you cannot remember you may
describe it.)
B.) How did the phenotype of their mouse model differ from those of patients who had mutations in DHCR7 gene? And how was it
similar?
C.) What is one reason to explain the differences between the DHCR7 mouse knockout model and human patients with the mutations in
the DHCR7 gene OTHER THAN the fact that they are two different organisms with differences in their biology?
D.) With your BIOL2299 expertise, assume you generate a mouse knockout model of a human disease. Imagine one real world outcome
from your study which can be applied in a clinical setting to help patients with that disease. Answer in one or two sentences.
Transcribed Image Text:Wassif et al. created a mouse knockout of DHCR7 (7-dehydrocholesterol reductase) gene. A.) Which disease or medical problem did Wassif et al. want to tackle with this mouse knockout? (If you cannot remember you may describe it.) B.) How did the phenotype of their mouse model differ from those of patients who had mutations in DHCR7 gene? And how was it similar? C.) What is one reason to explain the differences between the DHCR7 mouse knockout model and human patients with the mutations in the DHCR7 gene OTHER THAN the fact that they are two different organisms with differences in their biology? D.) With your BIOL2299 expertise, assume you generate a mouse knockout model of a human disease. Imagine one real world outcome from your study which can be applied in a clinical setting to help patients with that disease. Answer in one or two sentences.
Expert Solution
Step 1

This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol.

  • This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane.
  • Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS),a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases.
  • Alternative splicing results in multiple transcript variants that encode the same protein.
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