Three-Dimensional Modeling of Glucose-6-phosphate Dehydrogenase-Deficient Variants from German Ancestry
- Publication type:
- Journal article
- Metadata:
-
- Autoren
- Farooq Kiani
- Sonja Schwarzl
- Stefan Fischer
- Thomas Efferth
- Autoren-URL
- https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=fis-test-1&SrcAuth=WosAPI&KeyUT=WOS:000207452100015&DestLinkType=FullRecord&DestApp=WOS_CPL
- DOI
- 10.1371/journal.pone.0000625
- Externe Identifier
- Clarivate Analytics Document Solution ID: V10GI
- PubMed Identifier: 17637841
- ISSN
- 1932-6203
- Ausgabe der Veröffentlichung
- 7
- Zeitschrift
- PLOS ONE
- Artikelnummer
- ARTN e625
- Datum der Veröffentlichung
- 2007
- Status
- Published
- Titel
- Three-Dimensional Modeling of Glucose-6-phosphate Dehydrogenase-Deficient Variants from German Ancestry
- Sub types
- Article
- Ausgabe der Zeitschrift
- 2
Data source: Web of Science (Lite)
- Other metadata sources:
-
- Autoren
- Farooq Kiani
- Sonja Schwarzl
- Stefan Fischer
- Thomas Efferth
- DOI
- 10.1371/journal.pone.0000625
- Editoren
- Adam Yuan
- eISSN
- 1932-6203
- Ausgabe der Veröffentlichung
- 7
- Zeitschrift
- PLoS ONE
- Sprache
- en
- Online publication date
- 2007
- Paginierung
- e625 - e625
- Status
- Published online
- Herausgeber
- Public Library of Science (PLoS)
- Herausgeber URL
- http://dx.doi.org/10.1371/journal.pone.0000625
- Datum der Datenerfassung
- 2021
- Titel
- Three-Dimensional Modeling of Glucose-6-phosphate Dehydrogenase-Deficient Variants from German Ancestry
- Ausgabe der Zeitschrift
- 2
Data source: Crossref
- Abstract
- <h4>Background</h4>Loss of function of dimeric glucose-6-phosphate dehydrogenase (G6PD) represents the most common inborn error of metabolism throughout the world affecting an estimated 400 million people. In Germany, this enzymopathy is very rare.<h4>Methodology/principal findings</h4>On the basis of G6PD crystal structures, we have analyzed six G6PD variants of German ancestry by three-dimensional modeling. All mutations present in the German population are either close to one of the three G6P or NADP(+) units or to the interface of the two monomers. Two of the three mutated amino acids of G6PD Vancouver are closer to the binding site of NADP(+). The G6PD Aachen mutation is also closer to the second NADP(+) unit. The G6PD Wayne mutation is closer to the G6P binding region. These mutations may affect the binding of G6P and NADP(+) units. Three mutations, i.e. G6PD Munich, G6PD Riverside and G6PD Gastonia, lie closer to the interface of the two monomers. These may also affect the interface of two monomers.<h4>Conclusion</h4>None of these G6PD variants share mutations with the common G6PD variants known from the Mediterranean, Near East, or Africa indicating that they have developed independently. The G6PD variants have been compared with mutants from other populations and the implications for survival of G6PD variants from natural selection have been discussed.
- Addresses
- Computational Biochemistry, Interdisciplinary Center for Biocomputing, University of Heidelberg, Heidelberg, Germany.
- Autoren
- Farooq Kiani
- Sonja Schwarzl
- Stefan Fischer
- Thomas Efferth
- Thomas Efferth
- DOI
- 10.1371/journal.pone.0000625
- eISSN
- 1932-6203
- Externe Identifier
- PubMed Identifier: 17637841
- PubMed Central ID: PMC1913203
- Open access
- true
- ISSN
- 1932-6203
- Ausgabe der Veröffentlichung
- 7
- Zeitschrift
- PloS one
- Schlüsselwörter
- Humans
- Glucosephosphate Dehydrogenase Deficiency
- Metabolism, Inborn Errors
- NADP
- Glucosephosphate Dehydrogenase
- Mutation
- Models, Genetic
- Africa
- Middle East
- Europe
- Germany
- Genetic Variation
- Sprache
- eng
- Medium
- Electronic
- Online publication date
- 2007
- Open access status
- Open Access
- Paginierung
- e625
- Datum der Veröffentlichung
- 2007
- Status
- Published
- Publisher licence
- CC BY
- Datum der Datenerfassung
- 2007
- Titel
- Three-dimensional modeling of glucose-6-phosphate dehydrogenase-deficient variants from German ancestry.
- Sub types
- research-article
- Journal Article
- Ausgabe der Zeitschrift
- 2
Files
https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0000625&type=printable https://europepmc.org/articles/PMC1913203?pdf=render
Data source: Europe PubMed Central
- Abstract
- BACKGROUND: Loss of function of dimeric glucose-6-phosphate dehydrogenase (G6PD) represents the most common inborn error of metabolism throughout the world affecting an estimated 400 million people. In Germany, this enzymopathy is very rare. METHODOLOGY/PRINCIPAL FINDINGS: On the basis of G6PD crystal structures, we have analyzed six G6PD variants of German ancestry by three-dimensional modeling. All mutations present in the German population are either close to one of the three G6P or NADP(+) units or to the interface of the two monomers. Two of the three mutated amino acids of G6PD Vancouver are closer to the binding site of NADP(+). The G6PD Aachen mutation is also closer to the second NADP(+) unit. The G6PD Wayne mutation is closer to the G6P binding region. These mutations may affect the binding of G6P and NADP(+) units. Three mutations, i.e. G6PD Munich, G6PD Riverside and G6PD Gastonia, lie closer to the interface of the two monomers. These may also affect the interface of two monomers. CONCLUSION: None of these G6PD variants share mutations with the common G6PD variants known from the Mediterranean, Near East, or Africa indicating that they have developed independently. The G6PD variants have been compared with mutants from other populations and the implications for survival of G6PD variants from natural selection have been discussed.
- Date of acceptance
- 2007
- Autoren
- Farooq Kiani
- Sonja Schwarzl
- Stefan Fischer
- Thomas Efferth
- Autoren-URL
- https://www.ncbi.nlm.nih.gov/pubmed/17637841
- DOI
- 10.1371/journal.pone.0000625
- eISSN
- 1932-6203
- Externe Identifier
- PubMed Central ID: PMC1913203
- Ausgabe der Veröffentlichung
- 7
- Zeitschrift
- PLoS One
- Schlüsselwörter
- Africa
- Europe
- Genetic Variation
- Germany
- Glucosephosphate Dehydrogenase
- Glucosephosphate Dehydrogenase Deficiency
- Humans
- Metabolism, Inborn Errors
- Middle East
- Models, Genetic
- Mutation
- NADP
- Sprache
- eng
- Country
- United States
- Paginierung
- e625
- Datum der Veröffentlichung
- 2007
- Status
- Published online
- Datum, an dem der Datensatz öffentlich gemacht wurde
- 2010
- Titel
- Three-dimensional modeling of glucose-6-phosphate dehydrogenase-deficient variants from German ancestry.
- Sub types
- Journal Article
- Ausgabe der Zeitschrift
- 2
Data source: PubMed
- Beziehungen:
- Property of