Núñez-Gutiérrez IC, García-Cruz D, Fragoso-Herrera R, Medina-Lozano C

Language: English
References: 5
Page: 359-361
PDF size: 54.59 Kb.

Text Extraction

The cGMP phosphodiesterase beta-subunit (PDEB), when associated with a cGMP phosphodiesterase alpha-subunit, forms a functional holoenzyme that participates in the processes of transmission and amplification of the visual signal in rod cells. Both subunits have two cGMP-binding sites (GAF) in the N-terminal half and a catalytic domain (PDEase) in the C-terminal portion. The PDEB gene (4p16.3) presents with at least 28 reported mutations causing hereditary retinitis pigmentosa (RP), 27 polymorphic sites, and seven regions in conflict. ‘Regions in conflict’ are those with more than one version of the nucleotide sequence encoded by a specific DNA region. The conflict at site 698 in the PDEB protein is caused by the putative assignment of the amino acids isoleucine (Ile) or tyrosine (Tyr), coded by ATC and TAC triplets, respectively.

REFERENCES

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