Logo
Home Study Material Contact Search
AI Chat FREE
  1. sciences
  2. biology
  3. the human eye disease retinitis pigmentosa is caus

The human eye disease retinitis pigmentosa is caused by a loss of function mutation (rp) in...

80.2K

Verified Solution

Question

Biology

The human eye disease retinitis pigmentosa is caused by a lossof function mutation (rp) in the gene PRPF31. The disease isexpressed when combined with wildtype allele 1 (rp+1) in aheterozygote, but not expressed when combined with wildtype allele2 (rp+2) in a heterozygote. When comparing the number PRPF31 mRNAtranscripts in the eyes of rp/rp+1 and rp/rp+2 individuals,researchers have found a higher number of functional PRPF31 mRNAsin the eyes of rp/rp+2 individuals. This is an example of ______caused by haploinsufficiency or haplo-sufficiency________ when isrp occurs in the same genotype as rp+2.

Answer & Explanation Solved by verified expert
4.2 Ratings (705 Votes)
Dominant mutations in the gene encoding the mRNA splicing factor PRPF31 cause retinitis pigmentosa a hereditary form of retinal degeneration The mechanism of incomplete penetrance in RP has been    See Answer
Get Answers to Unlimited Questions

Join us to gain access to millions of questions and expert answers. Enjoy exclusive benefits tailored just for you!

Membership Benefits:
  • Unlimited Question Access with detailed Answers
  • Zin AI - 3 Million Words
  • 10 Dall-E 3 Images
  • 20 Plot Generations
  • Conversation with Dialogue Memory
  • No Ads, Ever!
  • Access to Our Best AI Platform: Flex AI - Your personal assistant for all your inquiries!
Become a Member

Other questions asked by students

Biology
1.2K views

Outline the evolution of the human lineage between 8 and 2 Mya.

Chemistry
1.2K views

1. An aqueous solution of calcium hydroxide is standardized by titration with a 0.171 M solution of hydroiodic...

Biology
1.2K views

4 2 3 O Provide strength and resistance in multiple directions along lines of stress...

Basic Math
1.2K views

You give a test to 100 students and determine the median score. After grading the...

Statistics
1.2K views

Find the standardized test statistic t to test the claim that H H Two samples...

Algebra
1.2K views

Consider the following autonomous DE y 4 y 1 2 y 3 Choose all correct...

Algebra
1.2K views

Write the equation for the graph shown below The parent function is f x x...

Accounting
1.2K views

5-37 (Activity-based costing, merchandising.) Pharmahelp, Inc., a distributor of special pharmaceutical products, operates at capacity...

Accounting
1.2K views

Bramble Company uses the periodic inventory method and had the following inventory information available: Unit...

Accounting
1.2K views

FSHSH Corporation generated net income of $17,000 on sales of $112,000 in this year. Its...

Accounting
1.2K views

A/An ________ is added back to net income in the operating section of an indirect...

Accounting
1.2K views

Your help is more important for mee Are there steps you could take...