Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients

Froissart, Roseline; Maire, I.; Millat, Gilles; Cudry, Stéphane; Birot, Anne-Marie; Bonnet, Véronique; Bouton, Olivier; Bozon, Dominique

doi:10.1111/j.1399-0004.1998.tb02746.x

Cited by 60 publications

(57 citation statements)

References 39 publications

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“…Cloudy corneas are not seen in MPS II. Mucopolysaccharidosis II is X-linked and is caused by deficiency of iduronate 2-sulfatase that also leads to heparan and dermatan sulfate accumulation [64].…”

Section: Mucopolysaccharidoses: Hurler Syndrome (Omim 607014)/hunter mentioning

confidence: 99%

Looking past the lump: genetic aspects of inguinal hernia in children

Barnett

Langer

Hinek

et al. 2009

Journal of Pediatric Surgery

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Section: Mucopolysaccharidoses: Hurler Syndrome (Omim 607014)/hunter mentioning

confidence: 99%

Looking past the lump: genetic aspects of inguinal hernia in children

Barnett

Langer

Hinek

et al. 2009

Journal of Pediatric Surgery

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“…Con relación a la variabilidad fenotípica de la enfermedad de Hunter, es claro que ésta es reflejo de la heterogeneidad mutacional de la IDSh (11). Sin embargo, los niveles de actividad enzimática no se correlacionan con la variabilidad fenotípica, ya que las pruebas de detección no son lo suficientemente sensibles.…”

Section: Discussionunclassified

Predicción computacional de la estructura terciaria de la iduronato 2-sulfato sulfatasa humana

et al. 2007

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Introducción. El síndrome de Hunter o mucopolisacaridosis tipo II (MC KUSIK 309900) es causado por la deficiencia de la iduronato 2-sulfato sulfatasa humana (E.C. 3.1.6.13). La enzima no ha sido cristalizada y por tanto sus estructuras no se conocen por deducción experimental. Objetivo. Proponer un modelo computacional para la estructura tridimensional de la iduronato 2-sulfato sulfatasa humana. Materiales y métodos. Se realizó un análisis computacional de esta enzima empleando programas de libre acceso en internet como Comput pI/MW, JaMBW Chapter 3.1.7, SWISS-MODEL, 3D-PSSM, ProSup. Los procesos de minimización de energía se realizaron con el programa Discover 3 del paquete Insight II (2004). Resultados. Se propone un modelo tridimensional de la iduronato 2-sulfato sulfatasa humana que presenta 33,3% en hélice, 7,2% en hoja plegada y 59,5% en enrollamiento al azar (coil). Se hallaron valores de RMS (del inglés Root Mean Square) de 0,78 y 0,86Å al compararla con otras enzimas de la misma familia. El modelo revela cinco sitios potenciales de N-glicosilación y una entrada al bolsillo que contiene los aminoácidos que componen el sitio activo. Usando este modelo se encontró una buena correlación entre el tipo de mutaciones y la gravedad de la enfermedad en 20 pacientes analizados. Conclusión. Los valores de RMS y la correlación genotipo-fenotipo en los pacientes analizados sugieren el modelo puede usarse para predecir ciertos aspectos del comportamiento biológico de la enzima. Palabras clave: mucopolisacaridosis II, iduronato sulfatasa, estructura terciaria de proteína, metodologías computacionales. Computational prediction of the tertiary structure of the human iduronate 2-sulfate sulfatase Introduction. Hunter syndrome (MC KUSIK 309900) or mucopolysacharidosis type II is due to the deficiency of the enzyme iduronate 2 sulfate sulfatase (E.C. 3.1.6.13). This enzyme has not been crystallized, and therefore the experimental structures are not available. Objectives. A computational three-dimensional model was proposed for the iduronate 2 sulfate sulfatase enzyme. Materials and methods. A computational analysis of this enzyme used the following free internet software programs: Comput pI/MW, JaMBW Chapter 3.1.7, SWISS-MODEL, Geno3d, ProSup. Energy minimization was done with Discover 3 and Insight II version 2004. Results. A three-dimensional conformational model was proposed. The model showed 33.3% of helix structure, 7.2% beta sheet, and 59.5% random coil. RMS values (Root Mean Square) (0.78 and 0.86Å) were found when compared with other enzymes of the same family. The model presented 5 exposed N-glycosylation potential sites and an entry to the pocket that

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“…Mucopolysaccharidosis II (Hunter syndrome) may result from large (20-30 kb) dele ons or inversions of the IDS locus on Xq28. This is believed to result from non-allelic homologous recombina on between the func onal gene copy and a pseudogene, occurring predominantly during male meiosis [1561]. Duplica ons including the MECP2 gene (Xq28), supposedly generated by the FoSTeS mechanism, are some mes seen in male pa ents with a specific phenotype, characterised by neurodevelopmental delay, intellectual disability and seizures (MECP2 duplica on syndrome) [1562,1563].…”

Section: S Snegov the Experiments Of Professor Bran Ng (1977)mentioning

confidence: 99%

DNA repair systems

Chakarov¹,

Petkova²,

Russev³

2014

Biodiscovery

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This paper provides detailed insight into the mechanisms of repair of different types of DNA damage and the direct molecular players (enzymes repairing the damage or tagging the damaged site for further processing; damage sensor molecules; other signalling and effector molecules). The gene c bases of diseases and condi ons associated with defec ve DNA repair are comprehensively reviewed, from the 'classic' severe diseases such as xeroderma pigmentosum and Cockayne syndrome to the much more subtle UV sensi vity syndromes. The review analyses the basic molecular mechanisms underlying the rela vely rare monogenic diseases of DNA repair and management of genome integrity as well as the common mul factorial diseases and condi ons with late onset that are associated with increased levels of oxida ve stress (metabolic syndrome, diabetes type 2, cardiovascular disease) and with accumula on of 'errors' in DNA (normal and pathological ageing phenotypes, various cancers). The role of cell cycle checkpoints in dividing cells and the mechanisms of decision-making for the fate of a damaged cell are discussed with regards to the cell homeostasis in normal and cancerous ssues. The role of major DNA damageassociated signalling and effector molecules (p53, ATM, poly-(ADP-ribose)-polymerase, DNA-dependent protein kinase, BRCA proteins, re noblastoma protein, and others) is discussed and illustrated with examples in the context of health and disease. DNA repair and programmed cell death are viewed together as a unified mechanism for limi ng the presence of damaged cells and cells with poten ally oncogenic transforma on in mul cellular organisms. Special a en on is paid to ageing as a natural phenomenon and an adap ve evolu onary mechanism, with a brief outline of 'successful ageing'. The differen al rates of repair of DNA in transcribed and nontranscribed regions of the genome and the specifici es of DNA repair profile in some types of cells (terminally differen ated cells, pluripotent stem cells, etc.) and in certain taxonomic groups (e.g. 'the rodent repairadox') are discussed with regards to replica ve ageing and the evolu onary processes on microand macroscale. The role of mutagenesis as a 'hit and miss' mechanism and the 'leakiness' of DNA repair for increasing gene c diversity in the course of individual life and on evolu onary scale and the phenomenology of ongoing molecular evolu on are extensively reviewed. Conflict of Interests:No poten al conflict of interest was disclosed by any of the authors. Types of DNA repair systemsIf you wish for peace, prepare for war.Publius Flavius Vege us Renatus, De Re Militari (circa 380 AD).DNA damage is a very broad term, encompassing many different types of lesions in DNA.Accordingly, DNA repair comprises many different types of pathways and mechanisms covering virtually every possible type of injury to the sequence or the structure of DNA.Accep ng Lewin's defini on of DNA damage "... any change that introduces a devia on from the usual double-helical structure" [1] , we may pre...

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Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients

Cited by 60 publications

References 39 publications

Looking past the lump: genetic aspects of inguinal hernia in children

Looking past the lump: genetic aspects of inguinal hernia in children

Predicción computacional de la estructura terciaria de la iduronato 2-sulfato sulfatasa humana

DNA repair systems

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