A t(2;8) Balanced Translocation with Breakpoints Near the Human HOXD Complex Causes Mesomelic Dysplasia and Vertebral Defects
Mesomelic dysplasia is a severe shortening of forearms and forelegs, and is found in several distinct human syndromes. Here, we report the cloning of the breakpoints of a human t(2;8)(q31;p21) balanced translocation associated with mesomelic dysplasia of the upper limbs, as well as with vertebral de...
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| Veröffentlicht in: | Genomics (San Diego, Calif.) Calif.), 2002-04, Vol.79 (4), p.493-498 |
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| creator | Spitz, François Montavon, Thomas Monso-Hinard, Christine Morris, Michael Ventruto, Maria-Luisa Antonarakis, Stylianos Ventruto, Valerio Duboule, Denis |
| description | Mesomelic dysplasia is a severe shortening of forearms and forelegs, and is found in several distinct human syndromes. Here, we report the cloning of the breakpoints of a human t(2;8)(q31;p21) balanced translocation associated with mesomelic dysplasia of the upper limbs, as well as with vertebral defects. We show that this translocation does not disrupt any gene, hence it most likely exerts its deleterious effect by modifying gene regulation. The HOXD complex lies approximately 60 kb from the translocation breakpoint on chromosome 2. This cluster of genes has an important role in the development of both the vertebral column and the limbs. Only a few cases of mutations of these homeotic genes have been described so far in humans. However, gain- and loss-of-function of Hoxd genes in mice can induce mesomelic dysplasia-like phenotypes, suggesting that misexpression of HOXD genes may indeed be at the origin of this hereditary phenotype. |
| doi_str_mv | 10.1006/geno.2002.6735 |
| format | Article |
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Here, we report the cloning of the breakpoints of a human t(2;8)(q31;p21) balanced translocation associated with mesomelic dysplasia of the upper limbs, as well as with vertebral defects. We show that this translocation does not disrupt any gene, hence it most likely exerts its deleterious effect by modifying gene regulation. The HOXD complex lies approximately 60 kb from the translocation breakpoint on chromosome 2. This cluster of genes has an important role in the development of both the vertebral column and the limbs. Only a few cases of mutations of these homeotic genes have been described so far in humans. However, gain- and loss-of-function of Hoxd genes in mice can induce mesomelic dysplasia-like phenotypes, suggesting that misexpression of HOXD genes may indeed be at the origin of this hereditary phenotype.</description><identifier>ISSN: 0888-7543</identifier><identifier>EISSN: 1089-8646</identifier><identifier>DOI: 10.1006/geno.2002.6735</identifier><identifier>PMID: 11944980</identifier><language>eng</language><publisher>San Diego, CA: Elsevier Inc</publisher><subject>Arm - abnormalities ; Basic Helix-Loop-Helix Transcription Factors ; Biological and medical sciences ; Bone Diseases, Developmental - genetics ; Bone Diseases, Developmental - pathology ; chromosome 2 ; chromosome 8 ; Chromosome Mapping ; Chromosomes, Human, Pair 2 - genetics ; Chromosomes, Human, Pair 8 - genetics ; Diseases of the osteoarticular system ; DNA-Binding Proteins - genetics ; Evolution, Molecular ; Female ; Genes, Homeobox ; Homeodomain Proteins - genetics ; hoxd gene ; Humans ; In Situ Hybridization, Fluorescence ; Leg - abnormalities ; Male ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Medical sciences ; mesomelic dysplasia ; Sequence Analysis, DNA ; Spine - abnormalities ; Transcription Factors - genetics ; Translocation, Genetic ; Zebrafish Proteins</subject><ispartof>Genomics (San Diego, Calif.), 2002-04, Vol.79 (4), p.493-498</ispartof><rights>2002 Elsevier Science (USA)</rights><rights>2002 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c401t-b95ba87e392b0305ee2231a85d7832cab46d3366179563099a257a96725782c3</citedby><cites>FETCH-LOGICAL-c401t-b95ba87e392b0305ee2231a85d7832cab46d3366179563099a257a96725782c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0888754302967352$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13607169$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11944980$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Spitz, François</creatorcontrib><creatorcontrib>Montavon, Thomas</creatorcontrib><creatorcontrib>Monso-Hinard, Christine</creatorcontrib><creatorcontrib>Morris, Michael</creatorcontrib><creatorcontrib>Ventruto, Maria-Luisa</creatorcontrib><creatorcontrib>Antonarakis, Stylianos</creatorcontrib><creatorcontrib>Ventruto, Valerio</creatorcontrib><creatorcontrib>Duboule, Denis</creatorcontrib><title>A t(2;8) Balanced Translocation with Breakpoints Near the Human HOXD Complex Causes Mesomelic Dysplasia and Vertebral Defects</title><title>Genomics (San Diego, Calif.)</title><addtitle>Genomics</addtitle><description>Mesomelic dysplasia is a severe shortening of forearms and forelegs, and is found in several distinct human syndromes. Here, we report the cloning of the breakpoints of a human t(2;8)(q31;p21) balanced translocation associated with mesomelic dysplasia of the upper limbs, as well as with vertebral defects. We show that this translocation does not disrupt any gene, hence it most likely exerts its deleterious effect by modifying gene regulation. The HOXD complex lies approximately 60 kb from the translocation breakpoint on chromosome 2. This cluster of genes has an important role in the development of both the vertebral column and the limbs. Only a few cases of mutations of these homeotic genes have been described so far in humans. However, gain- and loss-of-function of Hoxd genes in mice can induce mesomelic dysplasia-like phenotypes, suggesting that misexpression of HOXD genes may indeed be at the origin of this hereditary phenotype.</description><subject>Arm - abnormalities</subject><subject>Basic Helix-Loop-Helix Transcription Factors</subject><subject>Biological and medical sciences</subject><subject>Bone Diseases, Developmental - genetics</subject><subject>Bone Diseases, Developmental - pathology</subject><subject>chromosome 2</subject><subject>chromosome 8</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 2 - genetics</subject><subject>Chromosomes, Human, Pair 8 - genetics</subject><subject>Diseases of the osteoarticular system</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Evolution, Molecular</subject><subject>Female</subject><subject>Genes, Homeobox</subject><subject>Homeodomain Proteins - genetics</subject><subject>hoxd gene</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Leg - abnormalities</subject><subject>Male</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Medical sciences</subject><subject>mesomelic dysplasia</subject><subject>Sequence Analysis, DNA</subject><subject>Spine - abnormalities</subject><subject>Transcription Factors - genetics</subject><subject>Translocation, Genetic</subject><subject>Zebrafish Proteins</subject><issn>0888-7543</issn><issn>1089-8646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkTuP1DAURi0EYoeFlhK5AUGRwY_EsUW1OwMM0sI2I0Rn3Th3WEMSBzsBtuC_42hG2gpR3ebc13cIecrZmjOmXn_FIawFY2KtalndIyvOtCm0KtV9smJa66KuSnlGHqX0jTFmpBYPyRnnpiyNZivy54JOL8Ub_YpeQgeDw5buIwypCw4mHwb6y0839DIifB-DH6ZEPyFEOt0g3c09DHR3_WVLN6EfO_xNNzAnTPQjptBj5x3d3qaxg-SBwtDSzxgnbCJ0dIsHdFN6TB4coEv45FTPyf7d2_1mV1xdv_-wubgqXMn4VDSmakDXKI1omGQVohCSg67aWkvhoClVK6VSvDaVkswYEFUNRtW5aOHkOXlxHDvG8GPGNNneJ4ddfhjDnGzNFcud-r8g15JJXpkMro-giyGliAc7Rt9DvLWc2UWMXcTYRYxdxOSGZ6fJc9Nje4efTGTg-QmA5KA7ZAnOpztOKpbPXDbrI4c5r58eo03O4yLOxxypbYP_1w1_AUhNp64</recordid><startdate>20020401</startdate><enddate>20020401</enddate><creator>Spitz, François</creator><creator>Montavon, Thomas</creator><creator>Monso-Hinard, Christine</creator><creator>Morris, Michael</creator><creator>Ventruto, Maria-Luisa</creator><creator>Antonarakis, Stylianos</creator><creator>Ventruto, Valerio</creator><creator>Duboule, Denis</creator><general>Elsevier Inc</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>7QP</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20020401</creationdate><title>A t(2;8) Balanced Translocation with Breakpoints Near the Human HOXD Complex Causes Mesomelic Dysplasia and Vertebral Defects</title><author>Spitz, François ; Montavon, Thomas ; Monso-Hinard, Christine ; Morris, Michael ; Ventruto, Maria-Luisa ; Antonarakis, Stylianos ; Ventruto, Valerio ; Duboule, Denis</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c401t-b95ba87e392b0305ee2231a85d7832cab46d3366179563099a257a96725782c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Arm - abnormalities</topic><topic>Basic Helix-Loop-Helix Transcription Factors</topic><topic>Biological and medical sciences</topic><topic>Bone Diseases, Developmental - genetics</topic><topic>Bone Diseases, Developmental - pathology</topic><topic>chromosome 2</topic><topic>chromosome 8</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 2 - genetics</topic><topic>Chromosomes, Human, Pair 8 - genetics</topic><topic>Diseases of the osteoarticular system</topic><topic>DNA-Binding Proteins - genetics</topic><topic>Evolution, Molecular</topic><topic>Female</topic><topic>Genes, Homeobox</topic><topic>Homeodomain Proteins - genetics</topic><topic>hoxd gene</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Leg - abnormalities</topic><topic>Male</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Medical sciences</topic><topic>mesomelic dysplasia</topic><topic>Sequence Analysis, DNA</topic><topic>Spine - abnormalities</topic><topic>Transcription Factors - genetics</topic><topic>Translocation, Genetic</topic><topic>Zebrafish Proteins</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Spitz, François</creatorcontrib><creatorcontrib>Montavon, Thomas</creatorcontrib><creatorcontrib>Monso-Hinard, Christine</creatorcontrib><creatorcontrib>Morris, Michael</creatorcontrib><creatorcontrib>Ventruto, Maria-Luisa</creatorcontrib><creatorcontrib>Antonarakis, Stylianos</creatorcontrib><creatorcontrib>Ventruto, Valerio</creatorcontrib><creatorcontrib>Duboule, Denis</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>Calcium & Calcified Tissue 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><jtitle>Genomics (San Diego, Calif.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Spitz, François</au><au>Montavon, Thomas</au><au>Monso-Hinard, Christine</au><au>Morris, Michael</au><au>Ventruto, Maria-Luisa</au><au>Antonarakis, Stylianos</au><au>Ventruto, Valerio</au><au>Duboule, Denis</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A t(2;8) Balanced Translocation with Breakpoints Near the Human HOXD Complex Causes Mesomelic Dysplasia and Vertebral Defects</atitle><jtitle>Genomics (San Diego, Calif.)</jtitle><addtitle>Genomics</addtitle><date>2002-04-01</date><risdate>2002</risdate><volume>79</volume><issue>4</issue><spage>493</spage><epage>498</epage><pages>493-498</pages><issn>0888-7543</issn><eissn>1089-8646</eissn><abstract>Mesomelic dysplasia is a severe shortening of forearms and forelegs, and is found in several distinct human syndromes. Here, we report the cloning of the breakpoints of a human t(2;8)(q31;p21) balanced translocation associated with mesomelic dysplasia of the upper limbs, as well as with vertebral defects. We show that this translocation does not disrupt any gene, hence it most likely exerts its deleterious effect by modifying gene regulation. The HOXD complex lies approximately 60 kb from the translocation breakpoint on chromosome 2. This cluster of genes has an important role in the development of both the vertebral column and the limbs. Only a few cases of mutations of these homeotic genes have been described so far in humans. However, gain- and loss-of-function of Hoxd genes in mice can induce mesomelic dysplasia-like phenotypes, suggesting that misexpression of HOXD genes may indeed be at the origin of this hereditary phenotype.</abstract><cop>San Diego, CA</cop><pub>Elsevier Inc</pub><pmid>11944980</pmid><doi>10.1006/geno.2002.6735</doi><tpages>6</tpages></addata></record> |
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| subjects | Arm - abnormalities Basic Helix-Loop-Helix Transcription Factors Biological and medical sciences Bone Diseases, Developmental - genetics Bone Diseases, Developmental - pathology chromosome 2 chromosome 8 Chromosome Mapping Chromosomes, Human, Pair 2 - genetics Chromosomes, Human, Pair 8 - genetics Diseases of the osteoarticular system DNA-Binding Proteins - genetics Evolution, Molecular Female Genes, Homeobox Homeodomain Proteins - genetics hoxd gene Humans In Situ Hybridization, Fluorescence Leg - abnormalities Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences mesomelic dysplasia Sequence Analysis, DNA Spine - abnormalities Transcription Factors - genetics Translocation, Genetic Zebrafish Proteins |
| title | A t(2;8) Balanced Translocation with Breakpoints Near the Human HOXD Complex Causes Mesomelic Dysplasia and Vertebral Defects |
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