Trichothiodystrophy, a transcription syndrome
Trichothiodystrophy (TTD) is a rare genetic disorder characterized by a hair dysplasia and associated with numerous symptoms affecting mainly organs derived from the neuroectoderm. About half of TTD patients exhibit photosensitivity because their nucleotide-excision repair pathway (NER) does not rem...
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| Veröffentlicht in: | Trends in Genetics 2001-05, Vol.17 (5), p.279-286 |
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| creator | Bergmann, Etienne Egly, Jean-Marc |
| description | Trichothiodystrophy (TTD) is a rare genetic disorder characterized by a hair dysplasia and associated with numerous symptoms affecting mainly organs derived from the neuroectoderm. About half of TTD patients exhibit photosensitivity because their nucleotide-excision repair pathway (NER) does not remove UV-induced DNA lesions efficiently. However, they do not present the skin cancer susceptibility expected from such an NER disorder. Their deficiencies result from phenotype-specific mutations in either
XPB or
XPD. These genes encode the helicase subunits of TFIIH, a DNA repair factor that is also required for transcription of class II genes. Thus, time- and tissue-specific impairments of transcription might explain the developmental and neurological symptoms of TTD. In a third group of photosensitive patients, TTD-A, no mutation has been identified, although TFIIH amount is reduced. |
| doi_str_mv | 10.1016/S0168-9525(01)02280-6 |
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XPB or
XPD. These genes encode the helicase subunits of TFIIH, a DNA repair factor that is also required for transcription of class II genes. Thus, time- and tissue-specific impairments of transcription might explain the developmental and neurological symptoms of TTD. In a third group of photosensitive patients, TTD-A, no mutation has been identified, although TFIIH amount is reduced.</description><identifier>ISSN: 0168-9525</identifier><identifier>DOI: 10.1016/S0168-9525(01)02280-6</identifier><identifier>PMID: 11335038</identifier><language>eng</language><publisher>Oxford: Elsevier Ltd</publisher><subject>Abnormalities, Multiple - genetics ; Biochemistry, Molecular Biology ; Biological and medical sciences ; Cockayne syndrome ; Dermatology ; DNA Helicases ; DNA Repair - genetics ; DNA-Binding Proteins - genetics ; Hair and nails disorders ; Hair Diseases - genetics ; Humans ; Ichthyosis - genetics ; Life Sciences ; Medical sciences ; Neurocutaneous Syndromes - genetics ; neuroectoderm ; Phenotype ; Photosensitivity Disorders - genetics ; Proteins - genetics ; TFIIH ; TFIIH protein ; Transcription Factor TFIIH ; Transcription Factors - genetics ; Transcription Factors, TFII ; Transcription, Genetic - genetics ; Trichothiodystrophy ; Ultraviolet Rays ; xeroderma pigmentosum ; Xeroderma Pigmentosum Group D Protein ; XPB ; XPB gene ; XPD ; XPD gene</subject><ispartof>Trends in Genetics, 2001-05, Vol.17 (5), p.279-286</ispartof><rights>2001 Elsevier Science Ltd</rights><rights>2001 INIST-CNRS</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c573t-c8547779aa7bd6d291134e7cad8b3ef45e8fa96f3306dd5b396625ee575f51c43</citedby><cites>FETCH-LOGICAL-c573t-c8547779aa7bd6d291134e7cad8b3ef45e8fa96f3306dd5b396625ee575f51c43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/S0168-9525(01)02280-6$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,313,314,776,780,788,881,3536,27901,27903,27904,45974</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1021897$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11335038$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-04131755$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Bergmann, Etienne</creatorcontrib><creatorcontrib>Egly, Jean-Marc</creatorcontrib><title>Trichothiodystrophy, a transcription syndrome</title><title>Trends in Genetics</title><addtitle>Trends Genet</addtitle><description>Trichothiodystrophy (TTD) is a rare genetic disorder characterized by a hair dysplasia and associated with numerous symptoms affecting mainly organs derived from the neuroectoderm. About half of TTD patients exhibit photosensitivity because their nucleotide-excision repair pathway (NER) does not remove UV-induced DNA lesions efficiently. However, they do not present the skin cancer susceptibility expected from such an NER disorder. Their deficiencies result from phenotype-specific mutations in either
XPB or
XPD. These genes encode the helicase subunits of TFIIH, a DNA repair factor that is also required for transcription of class II genes. Thus, time- and tissue-specific impairments of transcription might explain the developmental and neurological symptoms of TTD. In a third group of photosensitive patients, TTD-A, no mutation has been identified, although TFIIH amount is reduced.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Biochemistry, Molecular Biology</subject><subject>Biological and medical sciences</subject><subject>Cockayne syndrome</subject><subject>Dermatology</subject><subject>DNA Helicases</subject><subject>DNA Repair - genetics</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Hair and nails disorders</subject><subject>Hair Diseases - genetics</subject><subject>Humans</subject><subject>Ichthyosis - genetics</subject><subject>Life Sciences</subject><subject>Medical sciences</subject><subject>Neurocutaneous Syndromes - genetics</subject><subject>neuroectoderm</subject><subject>Phenotype</subject><subject>Photosensitivity Disorders - genetics</subject><subject>Proteins - genetics</subject><subject>TFIIH</subject><subject>TFIIH protein</subject><subject>Transcription Factor TFIIH</subject><subject>Transcription Factors - genetics</subject><subject>Transcription Factors, TFII</subject><subject>Transcription, Genetic - genetics</subject><subject>Trichothiodystrophy</subject><subject>Ultraviolet Rays</subject><subject>xeroderma pigmentosum</subject><subject>Xeroderma Pigmentosum Group D Protein</subject><subject>XPB</subject><subject>XPB gene</subject><subject>XPD</subject><subject>XPD gene</subject><issn>0168-9525</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkMFKAzEQhnNQbK0-gtKDiAVXk81mkz1JKWqFggfrOWSTWRrZbmqyLfTtTdulevMyA8M38w8fQlcEPxBM8sePWERSsJTdYTLCaSpwkp-g_nHcQ-chfGGMGafsDPUIoZRhKvoomXurF65dWGe2ofVutdjeD9Ww9aoJ2ttVa10zDNvGeLeEC3RaqTrAZdcH6PPleT6ZJrP317fJeJboGNAmWrCMc14oxUuTm7SIeRlwrYwoKVQZA1GpIq8oxbkxrKRFnqcMgHFWMaIzOkCjw92FquXK26XyW-mUldPxTO5mOCOUcMY2JLK3B3bl3fcaQiuXNmioa9WAWwfJsUhTzP4HCRcFjmQE2QHU3oXgoTq-QLDcCZd74XJnVmIi98JlHveuu4B1uQTzu9XZjsBNB6igVV1Fx9qGP9dTIgoesacDBlHxxoKXQVtoNBjrQbfSOPvPJz-_lpzW</recordid><startdate>20010501</startdate><enddate>20010501</enddate><creator>Bergmann, Etienne</creator><creator>Egly, Jean-Marc</creator><general>Elsevier Ltd</general><general>Elsevier Science</general><general>Elsevier</general><scope>IQODW</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>7TM</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>1XC</scope></search><sort><creationdate>20010501</creationdate><title>Trichothiodystrophy, a transcription syndrome</title><author>Bergmann, Etienne ; Egly, Jean-Marc</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c573t-c8547779aa7bd6d291134e7cad8b3ef45e8fa96f3306dd5b396625ee575f51c43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Biochemistry, Molecular Biology</topic><topic>Biological and medical sciences</topic><topic>Cockayne syndrome</topic><topic>Dermatology</topic><topic>DNA Helicases</topic><topic>DNA Repair - genetics</topic><topic>DNA-Binding Proteins - genetics</topic><topic>Hair and nails disorders</topic><topic>Hair Diseases - genetics</topic><topic>Humans</topic><topic>Ichthyosis - genetics</topic><topic>Life Sciences</topic><topic>Medical sciences</topic><topic>Neurocutaneous Syndromes - genetics</topic><topic>neuroectoderm</topic><topic>Phenotype</topic><topic>Photosensitivity Disorders - genetics</topic><topic>Proteins - genetics</topic><topic>TFIIH</topic><topic>TFIIH protein</topic><topic>Transcription Factor TFIIH</topic><topic>Transcription Factors - genetics</topic><topic>Transcription Factors, TFII</topic><topic>Transcription, Genetic - genetics</topic><topic>Trichothiodystrophy</topic><topic>Ultraviolet Rays</topic><topic>xeroderma pigmentosum</topic><topic>Xeroderma Pigmentosum Group D Protein</topic><topic>XPB</topic><topic>XPB gene</topic><topic>XPD</topic><topic>XPD gene</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bergmann, Etienne</creatorcontrib><creatorcontrib>Egly, Jean-Marc</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><jtitle>Trends in Genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bergmann, Etienne</au><au>Egly, Jean-Marc</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Trichothiodystrophy, a transcription syndrome</atitle><jtitle>Trends in Genetics</jtitle><addtitle>Trends Genet</addtitle><date>2001-05-01</date><risdate>2001</risdate><volume>17</volume><issue>5</issue><spage>279</spage><epage>286</epage><pages>279-286</pages><issn>0168-9525</issn><abstract>Trichothiodystrophy (TTD) is a rare genetic disorder characterized by a hair dysplasia and associated with numerous symptoms affecting mainly organs derived from the neuroectoderm. About half of TTD patients exhibit photosensitivity because their nucleotide-excision repair pathway (NER) does not remove UV-induced DNA lesions efficiently. However, they do not present the skin cancer susceptibility expected from such an NER disorder. Their deficiencies result from phenotype-specific mutations in either
XPB or
XPD. These genes encode the helicase subunits of TFIIH, a DNA repair factor that is also required for transcription of class II genes. Thus, time- and tissue-specific impairments of transcription might explain the developmental and neurological symptoms of TTD. In a third group of photosensitive patients, TTD-A, no mutation has been identified, although TFIIH amount is reduced.</abstract><cop>Oxford</cop><pub>Elsevier Ltd</pub><pmid>11335038</pmid><doi>10.1016/S0168-9525(01)02280-6</doi><tpages>8</tpages></addata></record> |
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| subjects | Abnormalities, Multiple - genetics Biochemistry, Molecular Biology Biological and medical sciences Cockayne syndrome Dermatology DNA Helicases DNA Repair - genetics DNA-Binding Proteins - genetics Hair and nails disorders Hair Diseases - genetics Humans Ichthyosis - genetics Life Sciences Medical sciences Neurocutaneous Syndromes - genetics neuroectoderm Phenotype Photosensitivity Disorders - genetics Proteins - genetics TFIIH TFIIH protein Transcription Factor TFIIH Transcription Factors - genetics Transcription Factors, TFII Transcription, Genetic - genetics Trichothiodystrophy Ultraviolet Rays xeroderma pigmentosum Xeroderma Pigmentosum Group D Protein XPB XPB gene XPD XPD gene |
| title | Trichothiodystrophy, a transcription syndrome |
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