PRPH2/RDS Flashcards Preview

Genetics Fellowship > PRPH2/RDS > Flashcards

Flashcards in PRPH2/RDS Deck (14):
1

what is Peripherin-2?

  • its a CELL surface glycoprotein
    • in RODS and CONES
    • in the outer segments!
  • member of Tetraspanin family
  • encoded by PRPH2 gene
  • FUNCTION
    • adhesion molecule
    • involved in stabilization and compaction of OS disks
    • in other words in DISK MORPHOGENESIS
  • mutations cause
    • RP
    • macular degeneration
    • vitelliform dystrophy
    •  

2

what is peripherin-2 function?

  • adhesion molecule
  • involved in stabilization and compaction of OS disks
  • in other words in DISK MORPHOGENESIS

3

what DISEASED are due to a mutation in the PRPH2 gene?

  • adRP
  • digenic RP (PRPH2 + ROM1
    • (2 genes causing disease but form a different locus)
  • con-rod dystrophy
  • Pattern dystrophies
    • AOFMVD vitelliform macular dystrophy
    • Butterfly
  • Central Areolar dystrophy
  • AMD
  • RPA Albescens
  • recessive LCA

4

PRPH@ AKA as?

RDS retinal degeneration SLOW

5

how many disks per each Rod OS?

1000 disks

6

which OS are longer? rods or cones?

the RODS have longer OS

7

what is the structure of the puter segments?

where does PRPH@ plays a role

PRPH@ peripherin 

  • is not a phototransduction protein
  • plays a role in OS morphogenesis
    • precsicely at the rim of the OS (the 3rd domain)

A image thumb
8

why is peripherin called RDS?

it was named RDS in mice initially

it was one of the OLDEST animla models

then in humans PRPH@

9

how many mutations exist for the PRPH2 gene?

more than 90

10

where is the PRPH2/RDS gene>

6p.21.2

26 Kbases

3 exons

11

where is the ROM1 gene?

chromosome 11

12

is digenic RP (PRPH@ + ROM!) rare?

what inheritance?

AD and very rare 0.5% of adRP cases

13

AOFMVD is associated to mutations in what genes?

VMD2

PRPH2

14