A YAC Contig Spanning the Hypophosphatemic Rickets Disease Gene (HYP) Candidate Region
Dominant X-linked hypophosphatemic rickets (HYP) is the most common form of familial rickets. Linkage studies have localized the gene for this disorder to Xp22.1 between the markers DXS365 and DXS274, a region estimated to be approximately 3.5 cM. We have constructed a 1.5-Mb YAC contig encompassing...
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| Veröffentlicht in: | Genomics (San Diego, Calif.) Calif.), 1994-05, Vol.21 (1), p.229-237 |
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| creator | Francis, Fiona Rowe, Peter S.N. Econs, Michael J. See, Chee Gee Benham, Frances O'Riordan, Jeffrey L.H. Drezner, Marc K. Hamvas, Renata M.J. Lehrach, Hans |
| description | Dominant X-linked hypophosphatemic rickets (HYP) is the most common form of familial rickets. Linkage studies have localized the gene for this disorder to Xp22.1 between the markers DXS365 and DXS274, a region estimated to be approximately 3.5 cM. We have constructed a 1.5-Mb YAC contig encompassing this region by hybridization screening of high-density YAC clone filters. Rapid chromosome walking was achieved by direct hybridization of a pool of
Alu -PCR products derived from a YAC containing DXS365 to the filter grids. Overlaps between YACs in the contig were estimated by hybridization of end probes to YAC digest blots and by analysis of cosmid fingerprints obtained by hybridization of YAC inserts to a flow-sorted chromosome X cosmid library. All YACs in the contig have been verified by fluorescence
in situ hybridization. Several YACs spanning the HYP gene candidate region were selected for further analysis by rare-cutter enzyme digestion and pulsed-field gel electrophoresis. We estimate that the markers flanking the disease region, DXS365 and DXS274, are less than 1 Mb apart. This clone contig map provides an essential resource for the isolation of the HYP gene. |
| doi_str_mv | 10.1006/geno.1994.1247 |
| format | Article |
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Alu -PCR products derived from a YAC containing DXS365 to the filter grids. Overlaps between YACs in the contig were estimated by hybridization of end probes to YAC digest blots and by analysis of cosmid fingerprints obtained by hybridization of YAC inserts to a flow-sorted chromosome X cosmid library. All YACs in the contig have been verified by fluorescence
in situ hybridization. Several YACs spanning the HYP gene candidate region were selected for further analysis by rare-cutter enzyme digestion and pulsed-field gel electrophoresis. We estimate that the markers flanking the disease region, DXS365 and DXS274, are less than 1 Mb apart. This clone contig map provides an essential resource for the isolation of the HYP gene.</description><identifier>ISSN: 0888-7543</identifier><identifier>EISSN: 1089-8646</identifier><identifier>DOI: 10.1006/geno.1994.1247</identifier><identifier>PMID: 8088792</identifier><language>eng</language><publisher>San Diego, CA: Elsevier Inc</publisher><subject>Animals ; BASIC BIOLOGICAL SCIENCES ; Biological and medical sciences ; BIOTECHNOLOGY ; Chromosome Walking ; CHROMOSOMES ; Chromosomes, Artificial, Yeast ; Cricetinae ; DISEASES ; DNA HYBRIDIZATION ; Electrophoresis, Gel, Pulsed-Field ; Errors of metabolism ; ETIOLOGY ; GENETIC ENGINEERING ; GENETIC MAPPING ; Genetic Markers ; HETEROCHROMOSOMES ; HUMAN CHROMOSOMES ; HUMAN X CHROMOSOME ; Humans ; Hybrid Cells ; HYBRIDIZATION ; Hypophosphatemia, Familial - genetics ; Male ; MAPPING ; Medical sciences ; METABOLIC DISEASES ; Mice ; Miscellaneous hereditary metabolic disorders ; NUCLEIC ACID HYBRIDIZATION ; Polymerase Chain Reaction ; Repetitive Sequences, Nucleic Acid ; RICKETS ; SKELETAL DISEASES ; X Chromosome - radiation effects ; X CHROMOSOME 550400 -- Genetics</subject><ispartof>Genomics (San Diego, Calif.), 1994-05, Vol.21 (1), p.229-237</ispartof><rights>1994 Academic Press</rights><rights>1994 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c461t-e755f8908b4250a630c36593100edae87cf5ba1ab3e1e4513ffbffd87f39ddeb3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S088875438471247X$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,776,780,881,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4172232$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8088792$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/6758228$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>Francis, Fiona</creatorcontrib><creatorcontrib>Rowe, Peter S.N.</creatorcontrib><creatorcontrib>Econs, Michael J.</creatorcontrib><creatorcontrib>See, Chee Gee</creatorcontrib><creatorcontrib>Benham, Frances</creatorcontrib><creatorcontrib>O'Riordan, Jeffrey L.H.</creatorcontrib><creatorcontrib>Drezner, Marc K.</creatorcontrib><creatorcontrib>Hamvas, Renata M.J.</creatorcontrib><creatorcontrib>Lehrach, Hans</creatorcontrib><title>A YAC Contig Spanning the Hypophosphatemic Rickets Disease Gene (HYP) Candidate Region</title><title>Genomics (San Diego, Calif.)</title><addtitle>Genomics</addtitle><description>Dominant X-linked hypophosphatemic rickets (HYP) is the most common form of familial rickets. Linkage studies have localized the gene for this disorder to Xp22.1 between the markers DXS365 and DXS274, a region estimated to be approximately 3.5 cM. We have constructed a 1.5-Mb YAC contig encompassing this region by hybridization screening of high-density YAC clone filters. Rapid chromosome walking was achieved by direct hybridization of a pool of
Alu -PCR products derived from a YAC containing DXS365 to the filter grids. Overlaps between YACs in the contig were estimated by hybridization of end probes to YAC digest blots and by analysis of cosmid fingerprints obtained by hybridization of YAC inserts to a flow-sorted chromosome X cosmid library. All YACs in the contig have been verified by fluorescence
in situ hybridization. Several YACs spanning the HYP gene candidate region were selected for further analysis by rare-cutter enzyme digestion and pulsed-field gel electrophoresis. We estimate that the markers flanking the disease region, DXS365 and DXS274, are less than 1 Mb apart. This clone contig map provides an essential resource for the isolation of the HYP gene.</description><subject>Animals</subject><subject>BASIC BIOLOGICAL SCIENCES</subject><subject>Biological and medical sciences</subject><subject>BIOTECHNOLOGY</subject><subject>Chromosome Walking</subject><subject>CHROMOSOMES</subject><subject>Chromosomes, Artificial, Yeast</subject><subject>Cricetinae</subject><subject>DISEASES</subject><subject>DNA HYBRIDIZATION</subject><subject>Electrophoresis, Gel, Pulsed-Field</subject><subject>Errors of metabolism</subject><subject>ETIOLOGY</subject><subject>GENETIC ENGINEERING</subject><subject>GENETIC MAPPING</subject><subject>Genetic Markers</subject><subject>HETEROCHROMOSOMES</subject><subject>HUMAN CHROMOSOMES</subject><subject>HUMAN X CHROMOSOME</subject><subject>Humans</subject><subject>Hybrid Cells</subject><subject>HYBRIDIZATION</subject><subject>Hypophosphatemia, Familial - genetics</subject><subject>Male</subject><subject>MAPPING</subject><subject>Medical sciences</subject><subject>METABOLIC DISEASES</subject><subject>Mice</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>NUCLEIC ACID HYBRIDIZATION</subject><subject>Polymerase Chain Reaction</subject><subject>Repetitive Sequences, Nucleic Acid</subject><subject>RICKETS</subject><subject>SKELETAL DISEASES</subject><subject>X Chromosome - radiation effects</subject><subject>X CHROMOSOME 550400 -- Genetics</subject><issn>0888-7543</issn><issn>1089-8646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kMFr2zAUh0VZ6bKu194GYpSxHZxKli3Jx-BuzaCw0m2FnoQsPSXaEsm1lEL_-9ok9NbTO_y-93i_D6FzSuaUEH65ghDntGmqOS0rcYRmlMimkLzi79CMSCkLUVfsPfqQ0j9CSMNkeYJO5JiIppyh-wV-WLS4jSH7Ff7d6xB8WOG8Brx87mO_jqlf6wxbb_CdN_8hJ3zlE-gE-BoC4K_Lh9tvuNXBejty-A5WPoaP6NjpTYKzwzxFf398_9Mui5tf1z_bxU1hKk5zAaKunWyI7KqyJpozYhivGzY2A6tBCuPqTlPdMaBQ1ZQ51zlnpXCssRY6doo-7-_GlL1KxmcwaxNDAJMVF7UsSzlCX_ZQP8THHaSstj4Z2Gx0gLhLSnBBJWdiBOd70AwxpQGc6ge_1cOzokRNttVkW0221WR7XPh0uLzrtmBf8YPeMb845DoZvXGDDsanV6yioizZhMk9BqOqJw_D1ASCAeuHqYiN_q0PXgDerpnK</recordid><startdate>19940501</startdate><enddate>19940501</enddate><creator>Francis, Fiona</creator><creator>Rowe, Peter S.N.</creator><creator>Econs, Michael J.</creator><creator>See, Chee Gee</creator><creator>Benham, Frances</creator><creator>O'Riordan, Jeffrey L.H.</creator><creator>Drezner, Marc K.</creator><creator>Hamvas, Renata M.J.</creator><creator>Lehrach, Hans</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>7X8</scope><scope>OTOTI</scope></search><sort><creationdate>19940501</creationdate><title>A YAC Contig Spanning the Hypophosphatemic Rickets Disease Gene (HYP) Candidate Region</title><author>Francis, Fiona ; Rowe, Peter S.N. ; Econs, Michael J. ; See, Chee Gee ; Benham, Frances ; O'Riordan, Jeffrey L.H. ; Drezner, Marc K. ; Hamvas, Renata M.J. ; Lehrach, Hans</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c461t-e755f8908b4250a630c36593100edae87cf5ba1ab3e1e4513ffbffd87f39ddeb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Animals</topic><topic>BASIC BIOLOGICAL SCIENCES</topic><topic>Biological and medical sciences</topic><topic>BIOTECHNOLOGY</topic><topic>Chromosome Walking</topic><topic>CHROMOSOMES</topic><topic>Chromosomes, Artificial, Yeast</topic><topic>Cricetinae</topic><topic>DISEASES</topic><topic>DNA HYBRIDIZATION</topic><topic>Electrophoresis, Gel, Pulsed-Field</topic><topic>Errors of metabolism</topic><topic>ETIOLOGY</topic><topic>GENETIC ENGINEERING</topic><topic>GENETIC MAPPING</topic><topic>Genetic Markers</topic><topic>HETEROCHROMOSOMES</topic><topic>HUMAN CHROMOSOMES</topic><topic>HUMAN X CHROMOSOME</topic><topic>Humans</topic><topic>Hybrid Cells</topic><topic>HYBRIDIZATION</topic><topic>Hypophosphatemia, Familial - genetics</topic><topic>Male</topic><topic>MAPPING</topic><topic>Medical sciences</topic><topic>METABOLIC DISEASES</topic><topic>Mice</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>NUCLEIC ACID HYBRIDIZATION</topic><topic>Polymerase Chain Reaction</topic><topic>Repetitive Sequences, Nucleic Acid</topic><topic>RICKETS</topic><topic>SKELETAL DISEASES</topic><topic>X Chromosome - radiation effects</topic><topic>X CHROMOSOME 550400 -- Genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Francis, Fiona</creatorcontrib><creatorcontrib>Rowe, Peter S.N.</creatorcontrib><creatorcontrib>Econs, Michael J.</creatorcontrib><creatorcontrib>See, Chee Gee</creatorcontrib><creatorcontrib>Benham, Frances</creatorcontrib><creatorcontrib>O'Riordan, Jeffrey L.H.</creatorcontrib><creatorcontrib>Drezner, Marc K.</creatorcontrib><creatorcontrib>Hamvas, Renata M.J.</creatorcontrib><creatorcontrib>Lehrach, Hans</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>MEDLINE - Academic</collection><collection>OSTI.GOV</collection><jtitle>Genomics (San Diego, Calif.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Francis, Fiona</au><au>Rowe, Peter S.N.</au><au>Econs, Michael J.</au><au>See, Chee Gee</au><au>Benham, Frances</au><au>O'Riordan, Jeffrey L.H.</au><au>Drezner, Marc K.</au><au>Hamvas, Renata M.J.</au><au>Lehrach, Hans</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A YAC Contig Spanning the Hypophosphatemic Rickets Disease Gene (HYP) Candidate Region</atitle><jtitle>Genomics (San Diego, Calif.)</jtitle><addtitle>Genomics</addtitle><date>1994-05-01</date><risdate>1994</risdate><volume>21</volume><issue>1</issue><spage>229</spage><epage>237</epage><pages>229-237</pages><issn>0888-7543</issn><eissn>1089-8646</eissn><abstract>Dominant X-linked hypophosphatemic rickets (HYP) is the most common form of familial rickets. Linkage studies have localized the gene for this disorder to Xp22.1 between the markers DXS365 and DXS274, a region estimated to be approximately 3.5 cM. We have constructed a 1.5-Mb YAC contig encompassing this region by hybridization screening of high-density YAC clone filters. Rapid chromosome walking was achieved by direct hybridization of a pool of
Alu -PCR products derived from a YAC containing DXS365 to the filter grids. Overlaps between YACs in the contig were estimated by hybridization of end probes to YAC digest blots and by analysis of cosmid fingerprints obtained by hybridization of YAC inserts to a flow-sorted chromosome X cosmid library. All YACs in the contig have been verified by fluorescence
in situ hybridization. Several YACs spanning the HYP gene candidate region were selected for further analysis by rare-cutter enzyme digestion and pulsed-field gel electrophoresis. We estimate that the markers flanking the disease region, DXS365 and DXS274, are less than 1 Mb apart. This clone contig map provides an essential resource for the isolation of the HYP gene.</abstract><cop>San Diego, CA</cop><pub>Elsevier Inc</pub><pmid>8088792</pmid><doi>10.1006/geno.1994.1247</doi><tpages>9</tpages></addata></record> |
| fulltext | fulltext |
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| ispartof | Genomics (San Diego, Calif.), 1994-05, Vol.21 (1), p.229-237 |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Animals BASIC BIOLOGICAL SCIENCES Biological and medical sciences BIOTECHNOLOGY Chromosome Walking CHROMOSOMES Chromosomes, Artificial, Yeast Cricetinae DISEASES DNA HYBRIDIZATION Electrophoresis, Gel, Pulsed-Field Errors of metabolism ETIOLOGY GENETIC ENGINEERING GENETIC MAPPING Genetic Markers HETEROCHROMOSOMES HUMAN CHROMOSOMES HUMAN X CHROMOSOME Humans Hybrid Cells HYBRIDIZATION Hypophosphatemia, Familial - genetics Male MAPPING Medical sciences METABOLIC DISEASES Mice Miscellaneous hereditary metabolic disorders NUCLEIC ACID HYBRIDIZATION Polymerase Chain Reaction Repetitive Sequences, Nucleic Acid RICKETS SKELETAL DISEASES X Chromosome - radiation effects X CHROMOSOME 550400 -- Genetics |
| title | A YAC Contig Spanning the Hypophosphatemic Rickets Disease Gene (HYP) Candidate Region |
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