MPS II in females: molecular basis of two different cases

Wild type IDS cDNA and L41P mutant cDNA were transiently expressed in COS cells and normal human skin fibroblasts and stably expressed in LÎ² del. 6 The processing of the wild type IDS protein is identical in all these cells. 5 6 After a three hour pulse, COS cells, normal fibroblasts, and LÎ² del t...

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Veröffentlicht in:	Journal of medical genetics 2000-10, Vol.37 (10), p.e29-29
Hauptverfasser:	CUDRY, STÉPHANE, TIGAUD, ISABELLE, FROISSART, ROSELINE, BONNET, VÉRONIQUE, MAIRE, IRÈNE, BOZON, DOMINIQUE
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Animals Blotting, Southern Cell Line Child Child, Preschool Chromosome Deletion Chromosomes Cloning Disease DNA Methylation Dosage Compensation, Genetic Electronic Letters Fatal Outcome Female Females Fibroblasts France Genes Genes, Recessive - genetics Humans Hybrid Cells - drug effects Hybrid Cells - enzymology Hybrid Cells - metabolism Iduronate Sulfatase - genetics Iduronate Sulfatase - metabolism In Situ Hybridization, Fluorescence Introns - genetics Male Mucopolysaccharidosis II - enzymology Mucopolysaccharidosis II - genetics Mutation Mutation - genetics Ouabain - pharmacology Patients Phenotype Polymorphism, Genetic - genetics RNA, Messenger - analysis RNA, Messenger - genetics Skin X Chromosome - genetics
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container_title	Journal of medical genetics
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description	Wild type IDS cDNA and L41P mutant cDNA were transiently expressed in COS cells and normal human skin fibroblasts and stably expressed in LÎ² del. 6 The processing of the wild type IDS protein is identical in all these cells. 5 6 After a three hour pulse, COS cells, normal fibroblasts, and LÎ² del transfected with L41P mutant cDNA produced only the 76 kDa precursor, and after a 24 hour chase, no 55 kDa lysosomal mature form was produced in any of the different cell types expressing L41P, while the 76 kDa polypeptide was degraded (fig 2 , table 2 ). [...]they were not involved in the process of X inactivation and probably represent sequencing errors in U50908 and M97168 .
doi_str_mv	10.1136/jmg.37.10.e29
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[...]they were not involved in the process of X inactivation and probably represent sequencing errors in U50908 and M97168 .</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.37.10.e29</identifier><identifier>PMID: 11015461</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>Alleles ; Animals ; Blotting, Southern ; Cell Line ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosomes ; Cloning ; Disease ; DNA Methylation ; Dosage Compensation, Genetic ; Electronic Letters ; Fatal Outcome ; Female ; Females ; Fibroblasts ; France ; Genes ; Genes, Recessive - genetics ; Humans ; Hybrid Cells - drug effects ; Hybrid Cells - enzymology ; Hybrid Cells - metabolism ; Iduronate Sulfatase - genetics ; Iduronate Sulfatase - metabolism ; In Situ Hybridization, Fluorescence ; Introns - genetics ; Male ; Mucopolysaccharidosis II - enzymology ; Mucopolysaccharidosis II - genetics ; Mutation ; Mutation - genetics ; Ouabain - pharmacology ; Patients ; Phenotype ; Polymorphism, Genetic - genetics ; RNA, Messenger - analysis ; RNA, Messenger - genetics ; Skin ; X Chromosome - genetics</subject><ispartof>Journal of medical genetics, 2000-10, Vol.37 (10), p.e29-29</ispartof><rights>Journal of Medical Genetics</rights><rights>Copyright: 2000 Journal of Medical Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b3669-ffd406d5384f6edda40e403247c4181592a8f4584f1e7983dd30e020aadc80743</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1757154/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1757154/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11015461$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>CUDRY, STÉPHANE</creatorcontrib><creatorcontrib>TIGAUD, ISABELLE</creatorcontrib><creatorcontrib>FROISSART, ROSELINE</creatorcontrib><creatorcontrib>BONNET, VÉRONIQUE</creatorcontrib><creatorcontrib>MAIRE, IRÈNE</creatorcontrib><creatorcontrib>BOZON, DOMINIQUE</creatorcontrib><title>MPS II in females: molecular basis of two different cases</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>Wild type IDS cDNA and L41P mutant cDNA were transiently expressed in COS cells and normal human skin fibroblasts and stably expressed in LÎ² del. 6 The processing of the wild type IDS protein is identical in all these cells. 5 6 After a three hour pulse, COS cells, normal fibroblasts, and LÎ² del transfected with L41P mutant cDNA produced only the 76 kDa precursor, and after a 24 hour chase, no 55 kDa lysosomal mature form was produced in any of the different cell types expressing L41P, while the 76 kDa polypeptide was degraded (fig 2 , table 2 ). [...]they were not involved in the process of X inactivation and probably represent sequencing errors in U50908 and M97168 .</description><subject>Alleles</subject><subject>Animals</subject><subject>Blotting, Southern</subject><subject>Cell Line</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome Deletion</subject><subject>Chromosomes</subject><subject>Cloning</subject><subject>Disease</subject><subject>DNA Methylation</subject><subject>Dosage Compensation, Genetic</subject><subject>Electronic Letters</subject><subject>Fatal Outcome</subject><subject>Female</subject><subject>Females</subject><subject>Fibroblasts</subject><subject>France</subject><subject>Genes</subject><subject>Genes, Recessive - genetics</subject><subject>Humans</subject><subject>Hybrid Cells - drug effects</subject><subject>Hybrid Cells - enzymology</subject><subject>Hybrid Cells - metabolism</subject><subject>Iduronate Sulfatase - genetics</subject><subject>Iduronate Sulfatase - metabolism</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Introns - 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[...]they were not involved in the process of X inactivation and probably represent sequencing errors in U50908 and M97168 .</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd</pub><pmid>11015461</pmid><doi>10.1136/jmg.37.10.e29</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record>
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subjects	Alleles Animals Blotting, Southern Cell Line Child Child, Preschool Chromosome Deletion Chromosomes Cloning Disease DNA Methylation Dosage Compensation, Genetic Electronic Letters Fatal Outcome Female Females Fibroblasts France Genes Genes, Recessive - genetics Humans Hybrid Cells - drug effects Hybrid Cells - enzymology Hybrid Cells - metabolism Iduronate Sulfatase - genetics Iduronate Sulfatase - metabolism In Situ Hybridization, Fluorescence Introns - genetics Male Mucopolysaccharidosis II - enzymology Mucopolysaccharidosis II - genetics Mutation Mutation - genetics Ouabain - pharmacology Patients Phenotype Polymorphism, Genetic - genetics RNA, Messenger - analysis RNA, Messenger - genetics Skin X Chromosome - genetics
title	MPS II in females: molecular basis of two different cases
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