Abstract
The retina-specific human ABC transporter (ABCR) functions in the retinal transport system and has been implicated in several inherited visual diseases, including Stargardt disease, fundus flavimaculatus, cone-rod dystrophy, and age-related macular degeneration. We have previously described a general ribonucleotidase activity of the first nucleotide binding domain (NBD1) of human ABCR (Biswas, E. E. (2001) Biochemistry 40, 8181-8187). In this communication, we present a quantitative study analyzing the effects of certain disease-associated mutations, Gly-863 --> Ala, Pro-940 --> Arg, and Arg-943 --> Gln on the nucleotide binding, and general ribonucleotidase activities of this domain. NBD1 proteins, harboring these mutations, were created through in vitro site-specific mutagenesis and expressed in Escherichia coli. Results of the enzyme-kinetic studies indicated that these mutations altered the ATPase and CTPase activities of NBD1. The G863A and P940R mutations were found to have significant attenuation of the rates of nucleotide hydrolysis and binding affinities. On the other hand, the R943Q mutation had small, but detectable reduction in its nucleotidase activity and nucleotide binding affinity. We have measured the nucleotid...Continue Reading
References
Aug 1, 1978·The Journal of Cell Biology·D S PapermasterJ P Kraehenbuhl
Jan 1, 1992·Annual Review of Cell Biology·C F Higgins
Jan 1, 1992·Methods in Enzymology·C A Royer, J M Beechem
Dec 1, 1990·Analytical Biochemistry·C A RoyerJ M Beechem
Jan 1, 1989·Annual Review of Biochemistry·J A Endicott, V Ling
Aug 15, 1970·Nature·U K Laemmli
Apr 1, 1993·Analytical Biochemistry·C A Royer
Dec 1, 1995·Protein Expression and Purification·E E BiswasS B Biswas
Oct 1, 1996·Human Molecular Genetics·R AllikmetsM Dean
Mar 1, 1997·Nature Genetics·R AllikmetsJ R Lupski
Apr 11, 1997·The Journal of Biological Chemistry·M IllingR S Molday
Sep 20, 1997·Science·R AllikmetsM Leppert
Dec 31, 1997·The Journal of Biological Chemistry·M S OzersJ Gorski
Jan 13, 1998·Nature Genetics·A Martínez-MirS Balcells
Apr 18, 1998·Human Molecular Genetics·F P CremersC B Hoyng
Mar 7, 1998·Human Genetics·I NasonkinB H Weber
Jan 1, 1999·Nature·L W HungS H Kim
Feb 11, 1999·American Journal of Human Genetics·R A LewisM Dean
Mar 13, 1999·The Journal of Biological Chemistry·H SunJ Nathans
Mar 26, 1999·American Journal of Human Genetics·A MaugeriF P Cremers
Jul 10, 1999·The Journal of Biological Chemistry·G GrellerW Boos
Aug 25, 1999·Biochemistry·E E Biswas, S B Biswas
Dec 28, 1999·American Journal of Ophthalmology·K ZhangR Allikmets
May 18, 2000·Archives of Ophthalmology·M Neitz, J Neitz
May 23, 2000·Biochemistry·C L BoothI Pastan
Jun 28, 2000·Nucleic Acids Research·M BoyerC A Royer
Jul 11, 2000·Nature Genetics·L L MoldayR S Molday
Oct 4, 2000·Nature Genetics·H SunJ Nathans
Nov 18, 2000·The EMBO Journal·K DiederichsW Welte
Dec 22, 2000·Biochemistry·E E Biswas, S B Biswas
Mar 27, 2001·Gastroenterology·W DrobnikG Schmitz
May 30, 2001·Current Opinion in Genetics & Development·D A BessantS S Bhattacharya
Jul 11, 2001·Biochemistry·E E Biswas
Oct 31, 2001·Biochemistry·E S ImashevaR K Crouch
Citations
Feb 8, 2005·Journal of Molecular Evolution·Alexander N YatsenkoJames R Lupski
Dec 23, 2004·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·B Jeroen KleveringCarel B Hoyng
Mar 4, 2014·Protein Expression and Purification·Yaroslav Tsybovsky, Krzysztof Palczewski
Apr 21, 2010·The Journal of Biological Chemistry·Esther E Biswas-FissSubhasis B Biswas
Feb 20, 2013·Experimental Eye Research·Oscar F Chacón-CamachoJuan C Zenteno
Mar 28, 2012·Ophthalmology·Sarah C Westeneng-van HaaftenCarel B Hoyng
Feb 18, 2005·Journal of Neurochemistry·Jonathan A Roberts, Richard J Evans
Oct 21, 2006·Vision Research·A NavidR D Hamer
Mar 16, 2016·Ophthalmology·Riccardo SangermanoSilvia Albert
Oct 30, 2007·Fungal Genetics and Biology : FG & B·Jonathan Gómez-RajaGermán Larriba
Oct 21, 2004·European Journal of Human Genetics : EJHG·B Jeroen KleveringFrans P M Cremers
Nov 23, 2017·Genome Research·Riccardo SangermanoFrans P M Cremers
May 20, 2003·Human Mutation·Alexander N YatsenkoJames R Lupski
Jan 15, 2020·Eye and Vision·Rajendran Kadarkarai RajPeriasamy Sundaresan
Nov 13, 2012·The Journal of Biological Chemistry·Esther E Biswas-FissSubhasis B Biswas
Sep 5, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jun WangRui Chen
Mar 15, 2006·Biochemistry·Esther E Biswas-Fiss
Aug 31, 2021·Ophthalmic Genetics·Di HuangFred K Chen
Sep 10, 2003·Biochemistry·Esther E Biswas-Fiss