Recall that Leber congenital amaurosis (LCA), a form of congenital blindness in humans, can be caused by homozygosity for recessive mutations in the RPE65 gene. Recently, a rare dominant mutation in RPE65 has been implicated as one cause of an eye disease called retinitis pigmentosa, which is characterized by retinal degeneration that Can progress to blindness. The dominant RPE65 mutation is a missense mutation causing amino acid 447 in the polypeptide to change from Asp to Glu. Little is known about the nature of the mutant protein. a. Do you think that the dominant allele is more likely a loss-of-function or a gain-of-function mutation? Explain. b. As described in this chapter, gene therapy for LCA has been at least partially successful. Do you think that the same kind of gene therapy can be used for patients with retinitis pigmentosa caused by the dominant mutant allele of RPE65? Explain.

Question

09-12-2022
Biology

contestada

Recall that Leber congenital amaurosis (LCA), a form of congenital blindness in humans, can be caused by homozygosity for recessive mutations in the RPE65 gene. Recently, a rare dominant mutation in RPE65 has been implicated as one cause of an eye disease called retinitis pigmentosa, which is characterized by retinal degeneration that Can progress to blindness. The dominant RPE65 mutation is a missense mutation causing amino acid 447 in the polypeptide to change from Asp to Glu. Little is known about the nature of the mutant protein. a. Do you think that the dominant allele is more likely a loss-of-function or a gain-of-function mutation? Explain. b. As described in this chapter, gene therapy for LCA has been at least partially successful. Do you think that the same kind of gene therapy can be used for patients with retinitis pigmentosa caused by the dominant mutant allele of RPE65? Explain.

Respuesta :

Otras preguntas

what is a comparison as a rate in ratio form 70 students per 2 teachers

Read this excerpt from Fever 1793. I lifted my skirts and ran ahead of Grandfather. An unnamed fear shot through me. My eyes filled with tears. "No, this is t

Explain how "9+10=21"

A father who is 42 years old has a son and a daughter. The daughter is three times as old as the son. In 10 years, the sum of all their ages will be 100 years.

A football stadium holds 52,000 fans. A college student is doing research and determines that on any given game day, the home team has five times as many fans

PLEASE HElP Read the following excerpt from a blog post. What is the purpose of this piece of media writing? Shoppers at Alpha Mart in downtown New York last

What's the answer? And how do I solve this ?

Which of the following is true about the expression √3•2?

In some cases of head injuries, the cerebrum may be affected. This type of injury could cause a loss of

In simple dominance, what is the result when a dominant allele pairs up with a recessive allele? Offspring display both forms of the trait. Offspring display a

AyushiJain10 AyushiJain10 · Answer 1 · 2022-12-16T13:26:50+01:00

a. The primary mutation causing retinitis pigmentosa, which manifests as vision loss, is a loss-of-function mutation that prevents the REP65 protein from evolving into its functional form.

b. Because AAV vectors' expression declines with time and both recessive copies must be delivered simultaneously for the mutant phenotype to not be expressed, the same strategy could not be employed with dominant mutant alleles.

Homozygosity:

The condition of having two identical copies of a specific gene, one from each parent, is known as homozygosity. The reverse is heterozygous, which is when a person has two copies of a specific gene, one from each parent.

To learn more about homozygosity,

https://brainly.com/question/3676361

#SPJ4