• What is the causative gene mutation in these diseases? • What amino acid and/or protein domain is affected by the relevant mutation(s)? • How do these mutation(s) effect the expression or function of this gene product?
• What is the causative gene mutation in these diseases? • What amino acid and/or protein domain is affected by the relevant mutation(s)? • How do these mutation(s) effect the expression or function of this gene product?
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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Question
Answer the following questions with detailed expalantion

Transcribed Image Text:Consolidate your understanding about JAK-STAT signalling by investigating the following human diseases (approx. 30-45
minutes):
1. X-linked SCID
2. Job Syndrome (Hyper-IgE syndrome)
Ask yourself the following questions:
What is the causative gene mutation in these diseases?
• What amino acid and/or protein domain is affected by the relevant mutation(s)?
How do these mutation(s) effect the expression or function of this gene product?
What effect does this mutation have on the relevant cytokine -> cytokine receptor -> JAK ->STAT
signalling pathway?
Expert Solution

Step 1
this is a multipart question and according to our guidelines we are allowed to answer only 3 parts in a multipart question. Please repost the question and mention the specific parts to be answered.+
Mutations in IL2RG gene causes X- linked SCID. Mutations in STAT3 gene causes Job syndrome (hyper-IgE syndrome).
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