Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene
TNXA (also known as XA) is a truncated pseudogene of 5.7 kb that not only lacks most of the coding sequence of TNXB but also has a 120 bp deletion (indicated by the small triangle) spanning an exon-intron boundary. 10, 12, 17 CYP21A2 (also known as CYP21B) is the active steroid 21-hydroxylase gene;...
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| Veröffentlicht in: | Journal of medical genetics 2003-05, Vol.40 (5), p.e53-53 |
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| creator | Koppens, P F J Smeets, H J M de Wijs, I J Degenhart, H J |
| description | TNXA (also known as XA) is a truncated pseudogene of 5.7 kb that not only lacks most of the coding sequence of TNXB but also has a 120 bp deletion (indicated by the small triangle) spanning an exon-intron boundary. 10, 12, 17 CYP21A2 (also known as CYP21B) is the active steroid 21-hydroxylase gene; CYP21A1P (also known as CYP21A) is a full size pseudogene containing several deleterious mutations throughout its sequence, including three in phase stop codons. 9 The C4 genes express variants of the fourth component of complement with different affinities, known as C4A and C4B. [...]the current report clearly illustrates that a de novo recombination may be a pitfall in understanding RCCX haplotypes, emphasising the importance of studying entire families rather than isolated patients. |
| doi_str_mv | 10.1136/jmg.40.5.e53 |
| format | Article |
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[...]the current report clearly illustrates that a de novo recombination may be a pitfall in understanding RCCX haplotypes, emphasising the importance of studying entire families rather than isolated patients.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.40.5.e53</identifier><identifier>PMID: 12746407</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>Biosynthesis ; Child ; Chromosome Breakage - genetics ; Chromosome Deletion ; Chromosomes ; Congenital diseases ; Crossing Over, Genetic - genetics ; CYP21A2 ; Defects ; Deoxyribonucleic acid ; DNA ; DNA methylation ; DNA Mutational Analysis ; Ehlers-Danlos syndrome ; Electronic Letter ; Female ; Gene Deletion ; Genes ; Haplotypes ; Haplotypes - genetics ; Humans ; major histocompatibility complex ; Major Histocompatibility Complex - genetics ; Male ; MHC ; Mutation ; non-functional hybrid tenascin-X gene ; Patients ; PCR ; Pedigree ; polymerase chain reaction ; Polymorphism, Genetic - genetics ; Proteins - genetics ; Pseudogenes - genetics ; RCCX ; Recombinant Fusion Proteins - genetics ; Restriction Mapping ; RP-C4-CYP21-TNX module ; Steroid 21-Hydroxylase - genetics ; steroid 21-hydroxylase deficiency ; Tenascin - genetics ; TNF ; TNXB ; TNXB (also known as XA) ; tumour necrosis factor</subject><ispartof>Journal of medical genetics, 2003-05, Vol.40 (5), p.e53-53</ispartof><rights>Copyright 2003 Journal of Medical Genetics</rights><rights>Copyright: 2003 Copyright 2003 Journal of Medical Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b447t-cd03b8435421eb9f2378d05cadd66ecf4738fdfd5205236530aa3bf3186a303d3</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/PMC1735462/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735462/$$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/12746407$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Koppens, P F J</creatorcontrib><creatorcontrib>Smeets, H J M</creatorcontrib><creatorcontrib>de Wijs, I J</creatorcontrib><creatorcontrib>Degenhart, H J</creatorcontrib><title>Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>TNXA (also known as XA) is a truncated pseudogene of 5.7 kb that not only lacks most of the coding sequence of TNXB but also has a 120 bp deletion (indicated by the small triangle) spanning an exon-intron boundary. 10, 12, 17 CYP21A2 (also known as CYP21B) is the active steroid 21-hydroxylase gene; CYP21A1P (also known as CYP21A) is a full size pseudogene containing several deleterious mutations throughout its sequence, including three in phase stop codons. 9 The C4 genes express variants of the fourth component of complement with different affinities, known as C4A and C4B. [...]the current report clearly illustrates that a de novo recombination may be a pitfall in understanding RCCX haplotypes, emphasising the importance of studying entire families rather than isolated patients.</description><subject>Biosynthesis</subject><subject>Child</subject><subject>Chromosome Breakage - genetics</subject><subject>Chromosome Deletion</subject><subject>Chromosomes</subject><subject>Congenital diseases</subject><subject>Crossing Over, Genetic - genetics</subject><subject>CYP21A2</subject><subject>Defects</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>DNA methylation</subject><subject>DNA Mutational Analysis</subject><subject>Ehlers-Danlos syndrome</subject><subject>Electronic Letter</subject><subject>Female</subject><subject>Gene Deletion</subject><subject>Genes</subject><subject>Haplotypes</subject><subject>Haplotypes - genetics</subject><subject>Humans</subject><subject>major histocompatibility complex</subject><subject>Major Histocompatibility Complex - genetics</subject><subject>Male</subject><subject>MHC</subject><subject>Mutation</subject><subject>non-functional hybrid tenascin-X gene</subject><subject>Patients</subject><subject>PCR</subject><subject>Pedigree</subject><subject>polymerase chain reaction</subject><subject>Polymorphism, Genetic - genetics</subject><subject>Proteins - genetics</subject><subject>Pseudogenes - genetics</subject><subject>RCCX</subject><subject>Recombinant Fusion Proteins - genetics</subject><subject>Restriction Mapping</subject><subject>RP-C4-CYP21-TNX module</subject><subject>Steroid 21-Hydroxylase - genetics</subject><subject>steroid 21-hydroxylase deficiency</subject><subject>Tenascin - genetics</subject><subject>TNF</subject><subject>TNXB</subject><subject>TNXB (also known as XA)</subject><subject>tumour necrosis factor</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kU9v0zAYxi3ExMrgxhlZ4sCQSPF_pxekEUE3qQwOBY2T5cROm5LanZ1U60fh2-KQaoMLp_fw_p7nee0HgBcYTTGm4t1mu5oyNOVTy-kjMMFM5JkgjD0GE4QIyQif0VPwNMYNQphKLJ6AU0wkEwzJCfj1We92jVtBX0MNjYXO7z3snb3tdQur4GP0extgpfs4YAPT2q7xblB0awtjZ4NvDCQ4Wx9M8HeHVkcLz4sfXwm-IG_gyjoLtTNJ67zL6t5Vgz7Zrw9lSMrOOh2rxmU38Hx5ffNhlDwDJ7Vuo31-nGfg26ePy-IyW3yZXxUXi6xkTHZZZRAtc0Y5I9iWs5pQmRvEK22MELaqmaR5bWrDCeKECk6R1rSsKc6Fpogaegbej767vtxaU1nXBd2qXWi2OhyU1436d-OatVr5vcIyhQqSDF4dDYK_7W3s1Mb3Ib0vJiTHBLEZF4l6O1J__jTY-j4BIzUUqVKRiiHFVSoy4S__vuoBPjaXgGwEmlTA3f1eh59KSCq5uv5eKMTn84Isloon_vXIl9vN_6N_A6T6tfA</recordid><startdate>20030501</startdate><enddate>20030501</enddate><creator>Koppens, P F J</creator><creator>Smeets, H J M</creator><creator>de Wijs, I J</creator><creator>Degenhart, H J</creator><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><general>BMJ Group</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>5PM</scope></search><sort><creationdate>20030501</creationdate><title>Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene</title><author>Koppens, P F J ; Smeets, H J M ; de Wijs, I J ; Degenhart, H J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b447t-cd03b8435421eb9f2378d05cadd66ecf4738fdfd5205236530aa3bf3186a303d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Biosynthesis</topic><topic>Child</topic><topic>Chromosome Breakage - genetics</topic><topic>Chromosome Deletion</topic><topic>Chromosomes</topic><topic>Congenital diseases</topic><topic>Crossing Over, Genetic - genetics</topic><topic>CYP21A2</topic><topic>Defects</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>DNA methylation</topic><topic>DNA Mutational Analysis</topic><topic>Ehlers-Danlos syndrome</topic><topic>Electronic Letter</topic><topic>Female</topic><topic>Gene Deletion</topic><topic>Genes</topic><topic>Haplotypes</topic><topic>Haplotypes - genetics</topic><topic>Humans</topic><topic>major histocompatibility complex</topic><topic>Major Histocompatibility Complex - genetics</topic><topic>Male</topic><topic>MHC</topic><topic>Mutation</topic><topic>non-functional hybrid tenascin-X gene</topic><topic>Patients</topic><topic>PCR</topic><topic>Pedigree</topic><topic>polymerase chain reaction</topic><topic>Polymorphism, Genetic - genetics</topic><topic>Proteins - genetics</topic><topic>Pseudogenes - genetics</topic><topic>RCCX</topic><topic>Recombinant Fusion Proteins - genetics</topic><topic>Restriction Mapping</topic><topic>RP-C4-CYP21-TNX module</topic><topic>Steroid 21-Hydroxylase - genetics</topic><topic>steroid 21-hydroxylase deficiency</topic><topic>Tenascin - genetics</topic><topic>TNF</topic><topic>TNXB</topic><topic>TNXB (also known as XA)</topic><topic>tumour necrosis factor</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Koppens, P F J</creatorcontrib><creatorcontrib>Smeets, H J M</creatorcontrib><creatorcontrib>de Wijs, I J</creatorcontrib><creatorcontrib>Degenhart, H J</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Koppens, P F J</au><au>Smeets, H J M</au><au>de Wijs, I J</au><au>Degenhart, H J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>2003-05-01</date><risdate>2003</risdate><volume>40</volume><issue>5</issue><spage>e53</spage><epage>53</epage><pages>e53-53</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>TNXA (also known as XA) is a truncated pseudogene of 5.7 kb that not only lacks most of the coding sequence of TNXB but also has a 120 bp deletion (indicated by the small triangle) spanning an exon-intron boundary. 10, 12, 17 CYP21A2 (also known as CYP21B) is the active steroid 21-hydroxylase gene; CYP21A1P (also known as CYP21A) is a full size pseudogene containing several deleterious mutations throughout its sequence, including three in phase stop codons. 9 The C4 genes express variants of the fourth component of complement with different affinities, known as C4A and C4B. [...]the current report clearly illustrates that a de novo recombination may be a pitfall in understanding RCCX haplotypes, emphasising the importance of studying entire families rather than isolated patients.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd</pub><pmid>12746407</pmid><doi>10.1136/jmg.40.5.e53</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Journal of medical genetics, 2003-05, Vol.40 (5), p.e53-53 |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Biosynthesis Child Chromosome Breakage - genetics Chromosome Deletion Chromosomes Congenital diseases Crossing Over, Genetic - genetics CYP21A2 Defects Deoxyribonucleic acid DNA DNA methylation DNA Mutational Analysis Ehlers-Danlos syndrome Electronic Letter Female Gene Deletion Genes Haplotypes Haplotypes - genetics Humans major histocompatibility complex Major Histocompatibility Complex - genetics Male MHC Mutation non-functional hybrid tenascin-X gene Patients PCR Pedigree polymerase chain reaction Polymorphism, Genetic - genetics Proteins - genetics Pseudogenes - genetics RCCX Recombinant Fusion Proteins - genetics Restriction Mapping RP-C4-CYP21-TNX module Steroid 21-Hydroxylase - genetics steroid 21-hydroxylase deficiency Tenascin - genetics TNF TNXB TNXB (also known as XA) tumour necrosis factor |
| title | Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene |
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