Limited contribution of interchromosomal gene conversion toNF1 gene mutation
[...]the pseudogenes could act as reservoirs of mutations, which might be crossed into the functionalNF1 gene by interchromosomal gene conversion. 5 Gene conversion, the non-reciprocal transfer of genetic information between two related sequences, has been recognised as a mutational mechanism for se...
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| Veröffentlicht in: | Journal of medical genetics 2001-07, Vol.38 (7), p.481 |
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| container_title | Journal of medical genetics |
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| creator | Luijten, M Fahsold, R Mischung, C Westerveld, A Nürnberg, P Hulsebos, T J M |
| description | [...]the pseudogenes could act as reservoirs of mutations, which might be crossed into the functionalNF1 gene by interchromosomal gene conversion. 5 Gene conversion, the non-reciprocal transfer of genetic information between two related sequences, has been recognised as a mutational mechanism for several human genes. 15-17 In all these cases, the conversions occurred between gene and pseudogene on the same chromosome. About 32% of all single base pair substitutions causing human genetic disease occur in CpG dinucleotides. 21 As CpGs of theNF1 coding region are subject to methylation, 22 these six C to T transitions are probably the result of spontaneous deamination of 5-methylcytosine rather than of interchromosomal gene conversion. |
| doi_str_mv | 10.1136/jmg.38.7.481 |
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About 32% of all single base pair substitutions causing human genetic disease occur in CpG dinucleotides. 21 As CpGs of theNF1 coding region are subject to methylation, 22 these six C to T transitions are probably the result of spontaneous deamination of 5-methylcytosine rather than of interchromosomal gene conversion.</description><identifier>ISSN: 0022-2593</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.38.7.481</identifier><identifier>PMID: 11476066</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Chromosomes ; Conversion ; Genes ; Genomes ; Mutation</subject><ispartof>Journal of medical genetics, 2001-07, Vol.38 (7), p.481</ispartof><rights>Journal of Medical Genetics</rights><rights>Copyright: 2001 Journal of Medical Genetics</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids></links><search><creatorcontrib>Luijten, M</creatorcontrib><creatorcontrib>Fahsold, R</creatorcontrib><creatorcontrib>Mischung, C</creatorcontrib><creatorcontrib>Westerveld, A</creatorcontrib><creatorcontrib>Nürnberg, P</creatorcontrib><creatorcontrib>Hulsebos, T J M</creatorcontrib><title>Limited contribution of interchromosomal gene conversion toNF1 gene mutation</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>[...]the pseudogenes could act as reservoirs of mutations, which might be crossed into the functionalNF1 gene by interchromosomal gene conversion. 5 Gene conversion, the non-reciprocal transfer of genetic information between two related sequences, has been recognised as a mutational mechanism for several human genes. 15-17 In all these cases, the conversions occurred between gene and pseudogene on the same chromosome. About 32% of all single base pair substitutions causing human genetic disease occur in CpG dinucleotides. 21 As CpGs of theNF1 coding region are subject to methylation, 22 these six C to T transitions are probably the result of spontaneous deamination of 5-methylcytosine rather than of interchromosomal gene conversion.</description><subject>Chromosomes</subject><subject>Conversion</subject><subject>Genes</subject><subject>Genomes</subject><subject>Mutation</subject><issn>0022-2593</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>BENPR</sourceid><recordid>eNo9kMFOhDAQhhujcdfVmw9A4sET2GmhLUdDXDXimpiNBy8NLWUFF6qlGH17IRhPk_z5_pnMh9A54AiAsqum3UVURDyKBRygJcRMhIzE8SFaYkxISJKULtBJ3zcYA-XAjtECIOYMM7ZEeV63tTdloG3nXa0GX9susFVQd944_eZsa3vbFvtgZzozUV_G9RPj7WYNc9oOvph6p-ioKva9OfubK7Rd32yzuzB_ur3PrvNQpSINBVCscSqEZpqYtKxMTBLQOjFjrETMqxJXlSGKKZVyorXCirOUCqpwUWJFV-hiXvvh7Odgei8bO7huvCiBCyAEYPx5hcKZqntvvuWHq9vC_cjCvUvGKU_k5iWTz4_ZKzysQeKRv5x51Tb_NGA5SZajZEmF5HKUTH8ByDFtWA</recordid><startdate>200107</startdate><enddate>200107</enddate><creator>Luijten, M</creator><creator>Fahsold, R</creator><creator>Mischung, C</creator><creator>Westerveld, A</creator><creator>Nürnberg, P</creator><creator>Hulsebos, T J M</creator><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><scope>BSCLL</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></search><sort><creationdate>200107</creationdate><title>Limited contribution of interchromosomal gene conversion toNF1 gene mutation</title><author>Luijten, M ; 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| subjects | Chromosomes Conversion Genes Genomes Mutation |
| title | Limited contribution of interchromosomal gene conversion toNF1 gene mutation |
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