Impairment of Sox9 expression in limb buds of rats homozygous for hypodactyly mutation
Rat hypodactyly (hd) is an autosomal recessive mutation manifesting in homozygotes as reduction or loss of digits II and III. We mapped the hd allele to a short segment of chromosome 10, containing 16 genes. None of these genes has been shown to influence limb development yet. In situ hybridization...
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| Veröffentlicht in: | Folia biologica 2010-01, Vol.56 (2), p.58-65 |
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| creator | Liska, F Snajdr, P Stricker, S Gosele, C Krenová, D Mundlos, S Hubner, N |
| description | Rat hypodactyly (hd) is an autosomal recessive mutation manifesting in homozygotes as reduction or loss of digits II and III. We mapped the hd allele to a short segment of chromosome 10, containing 16 genes. None of these genes has been shown to influence limb development yet. In situ hybridization showed no changes in several important patterning genes (Shh, Fgf8, Bmp2, 4, 7). However, we found that expression of cartilage condensation marker Sox9, and Bmp receptor Bmpr1b (acting as an upstream activator of Sox9 expression) is absent from the subepithelial mesenchyme of the digit condensations II and III. The failure of the chondrogenic condensations to extend towards the subepithelial mesenchyme may reduce the size of digit primordia and underlie the subsequent loss of phalanges and reduction of metacarpals/metatarsals in hd rats. |
| doi_str_mv | 10.14712/fb2010056020058 |
| format | Article |
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We mapped the hd allele to a short segment of chromosome 10, containing 16 genes. None of these genes has been shown to influence limb development yet. In situ hybridization showed no changes in several important patterning genes (Shh, Fgf8, Bmp2, 4, 7). However, we found that expression of cartilage condensation marker Sox9, and Bmp receptor Bmpr1b (acting as an upstream activator of Sox9 expression) is absent from the subepithelial mesenchyme of the digit condensations II and III. The failure of the chondrogenic condensations to extend towards the subepithelial mesenchyme may reduce the size of digit primordia and underlie the subsequent loss of phalanges and reduction of metacarpals/metatarsals in hd rats.</description><identifier>ISSN: 0015-5500</identifier><identifier>EISSN: 2533-7602</identifier><identifier>DOI: 10.14712/fb2010056020058</identifier><identifier>PMID: 20492757</identifier><language>eng</language><publisher>Czech Republic: Charles University in Prague, First Faculty of Medicine</publisher><subject>Animals ; Body Patterning - genetics ; Bone Morphogenetic Protein Receptors, Type I - genetics ; Bone Morphogenetic Protein Receptors, Type I - metabolism ; Embryo, Mammalian - anatomy & histology ; Embryo, Mammalian - metabolism ; Extremities ; Female ; Gene Expression Regulation, Developmental ; Homeodomain Proteins - genetics ; Homeodomain Proteins - metabolism ; Limb Buds - abnormalities ; Limb Buds - metabolism ; Male ; Mutation ; Phenotype ; Rats ; Rats, Wistar ; SOX9 Transcription Factor - genetics ; SOX9 Transcription Factor - metabolism</subject><ispartof>Folia biologica, 2010-01, Vol.56 (2), p.58-65</ispartof><rights>Copyright Charles University in Prague, First Faculty of Medicine 2010</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c320t-3152952a4677eb43804f2a64f42a2b235f17c95b8a5aa51f03fada585634c6003</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20492757$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Liska, F</creatorcontrib><creatorcontrib>Snajdr, P</creatorcontrib><creatorcontrib>Stricker, S</creatorcontrib><creatorcontrib>Gosele, C</creatorcontrib><creatorcontrib>Krenová, D</creatorcontrib><creatorcontrib>Mundlos, S</creatorcontrib><creatorcontrib>Hubner, N</creatorcontrib><title>Impairment of Sox9 expression in limb buds of rats homozygous for hypodactyly mutation</title><title>Folia biologica</title><addtitle>Folia Biol (Praha)</addtitle><description>Rat hypodactyly (hd) is an autosomal recessive mutation manifesting in homozygotes as reduction or loss of digits II and III. 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The failure of the chondrogenic condensations to extend towards the subepithelial mesenchyme may reduce the size of digit primordia and underlie the subsequent loss of phalanges and reduction of metacarpals/metatarsals in hd rats.</description><subject>Animals</subject><subject>Body Patterning - genetics</subject><subject>Bone Morphogenetic Protein Receptors, Type I - genetics</subject><subject>Bone Morphogenetic Protein Receptors, Type I - metabolism</subject><subject>Embryo, Mammalian - anatomy & histology</subject><subject>Embryo, Mammalian - metabolism</subject><subject>Extremities</subject><subject>Female</subject><subject>Gene Expression Regulation, Developmental</subject><subject>Homeodomain Proteins - genetics</subject><subject>Homeodomain Proteins - metabolism</subject><subject>Limb Buds - abnormalities</subject><subject>Limb Buds - metabolism</subject><subject>Male</subject><subject>Mutation</subject><subject>Phenotype</subject><subject>Rats</subject><subject>Rats, Wistar</subject><subject>SOX9 Transcription Factor - genetics</subject><subject>SOX9 Transcription Factor - metabolism</subject><issn>0015-5500</issn><issn>2533-7602</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNpdkElPwzAQhS0EoqVw54QsLpwC4y3LEVUslSpxYLlGTmLTVHEc7ERq-PWYtnDoZUaj-d7ozUPoksAt4Qmhd7qgQABEDDTU9AhNqWAsSsJ8jKYARERCAEzQmfdrAMaBsVM0ocAzmohkij4WppO1M6rtsdX41W4yrDadU97XtsV1i5vaFLgYKv-7d7L3eGWN_R4_7eCxtg6vxs5WsuzHZsRm6GUfhOfoRMvGq4t9n6H3x4e3-XO0fHlazO-XUcko9BEjgmaCSh4niSo4S4FrKmOuOZW0oExokpSZKFIppBREA9OykiIVMeNlHP6ZoZvd3c7Zr0H5Pje1L1XTyFYFf3nCWMiGb8nrA3JtB9cGczkjlFECGQkQ7KDSWe-d0nnnaiPdmBPIt4nnB4kHydX-7lAYVf0L_iJmPy-ieoo</recordid><startdate>20100101</startdate><enddate>20100101</enddate><creator>Liska, F</creator><creator>Snajdr, P</creator><creator>Stricker, S</creator><creator>Gosele, C</creator><creator>Krenová, D</creator><creator>Mundlos, S</creator><creator>Hubner, N</creator><general>Charles University in Prague, First Faculty of Medicine</general><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>4T-</scope><scope>4U-</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</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>BYOGL</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>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20100101</creationdate><title>Impairment of Sox9 expression in limb buds of rats homozygous for hypodactyly mutation</title><author>Liska, F ; 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| subjects | Animals Body Patterning - genetics Bone Morphogenetic Protein Receptors, Type I - genetics Bone Morphogenetic Protein Receptors, Type I - metabolism Embryo, Mammalian - anatomy & histology Embryo, Mammalian - metabolism Extremities Female Gene Expression Regulation, Developmental Homeodomain Proteins - genetics Homeodomain Proteins - metabolism Limb Buds - abnormalities Limb Buds - metabolism Male Mutation Phenotype Rats Rats, Wistar SOX9 Transcription Factor - genetics SOX9 Transcription Factor - metabolism |
| title | Impairment of Sox9 expression in limb buds of rats homozygous for hypodactyly mutation |
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