Identification, Characterization, and Precise Mapping of a Human Gene Encoding a Novel Membrane-Spanning Protein from the 22q11 Region Deleted in Velo–Cardio–Facial Syndrome
Velo–cardio–facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes including cleft palate, conotruncal heart defects, and facial dysmorphology. Hemizygosity for a portion of chromosome 22q11 has been detected in 80– 85% of VCFS/DGS patients. Using a cDN...
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| Veröffentlicht in: | Genomics (San Diego, Calif.) Calif.), 1997-06, Vol.42 (2), p.245-251 |
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| container_title | Genomics (San Diego, Calif.) |
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| creator | Sirotkin, Howard Morrow, Bernice Saint-Jore, Bruno Puech, Anne Gupta, Ruchira Das Patanjali, Sankhavaram R. Skoultchi, Arthur Weissman, Sherman M. Kucherlapati, Raju |
| description | Velo–cardio–facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes including cleft palate, conotruncal heart defects, and facial dysmorphology. Hemizygosity for a portion of chromosome 22q11 has been detected in 80– 85% of VCFS/DGS patients. Using a cDNA selection protocol, we have identified a new gene, TMVCF (transmembrane protein deleted in VCFS), which maps to the deleted interval. The genomic locus is positioned between polymorphic markers D22S944 and D22S941. TMVCF encodes a small protein of 219 amino acids that is predicted to contain two membrane-spanning domains. TMVCF is expressed abundantly in human adult lung, heart, and skeletal muscle, and transcripts can be detected at least as early as Day 9 of mouse development. |
| doi_str_mv | 10.1006/geno.1997.4734 |
| format | Article |
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Hemizygosity for a portion of chromosome 22q11 has been detected in 80– 85% of VCFS/DGS patients. Using a cDNA selection protocol, we have identified a new gene, TMVCF (transmembrane protein deleted in VCFS), which maps to the deleted interval. The genomic locus is positioned between polymorphic markers D22S944 and D22S941. TMVCF encodes a small protein of 219 amino acids that is predicted to contain two membrane-spanning domains. 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TMVCF is expressed abundantly in human adult lung, heart, and skeletal muscle, and transcripts can be detected at least as early as Day 9 of mouse development.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Adult</subject><subject>Amino Acid Sequence</subject><subject>Animals</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 22 - genetics</subject><subject>Claudin-5</subject><subject>Cleft Palate - genetics</subject><subject>Cloning, Molecular</subject><subject>Complex syndromes</subject><subject>DNA, Complementary - genetics</subject><subject>Embryonic and Fetal Development - genetics</subject><subject>Face - abnormalities</subject><subject>Heart Defects, Congenital - genetics</subject><subject>Humans</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Mice</subject><subject>Molecular Sequence Data</subject><subject>Sequence Deletion</subject><subject>Sequence Homology, Amino Acid</subject><subject>Syndrome</subject><issn>0888-7543</issn><issn>1089-8646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc9uFSEUhydGU6_VrTsTFsaVcwWGGWBprv2XtNpYdUu4cLjFzMAU5jZpV30Hn8RX8klkcm-6M64g_L7DgfNV1WuClwTj7sMGQlwSKfmS8YY9qRYEC1mLjnVPqwUWQtS8Zc3z6kXOPzHGshH0oDqQRFLB2KL6fWYhTN55oycfw3u0utZJmwmSv9-f6GDRZQLjM6ALPY4-bFB0SKPT7aADOoEA6CiYaOdAo8_xFnp0AcM66QD11ahDmJPLFCfwAbkUBzRdA6L0hhD0FTalC_oEPUxgUQF-QB__PPxa6WT9vDnWxuseXd0FW0rhZfXM6T7Dq_16WH0_Pvq2Oq3Pv5ycrT6e16bF7VSDIUaKznXdusXEiYY2hlHbthIDJ0wy01kwDCTVpsMNdtQ5TDVlmLWYwbo5rN7t7h1TvNlCntTgs4G-L7-K26y4xB1vW_FfkHSYN7zBBVzuQJNizgmcGpMfdLpTBKtZppplqlmmmmWWgjf7m7frAewjvrdX8rf7XGeje1cGXiw9YpQT3vK5r9hhUMZ16yGpbDwEA9YXrZOy0f_rBX8BCBy9iQ</recordid><startdate>19970601</startdate><enddate>19970601</enddate><creator>Sirotkin, Howard</creator><creator>Morrow, Bernice</creator><creator>Saint-Jore, Bruno</creator><creator>Puech, Anne</creator><creator>Gupta, Ruchira Das</creator><creator>Patanjali, Sankhavaram R.</creator><creator>Skoultchi, Arthur</creator><creator>Weissman, Sherman M.</creator><creator>Kucherlapati, Raju</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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19970601</creationdate><title>Identification, Characterization, and Precise Mapping of a Human Gene Encoding a Novel Membrane-Spanning Protein from the 22q11 Region Deleted in Velo–Cardio–Facial Syndrome</title><author>Sirotkin, Howard ; Morrow, Bernice ; Saint-Jore, Bruno ; Puech, Anne ; Gupta, Ruchira Das ; Patanjali, Sankhavaram R. ; Skoultchi, Arthur ; Weissman, Sherman M. ; Kucherlapati, Raju</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c505t-ec1c986f66b501f8323c42d5590e71494c6dec4e92ac6030f2ff02a2404504eb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Adult</topic><topic>Amino Acid Sequence</topic><topic>Animals</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 22 - genetics</topic><topic>Claudin-5</topic><topic>Cleft Palate - genetics</topic><topic>Cloning, Molecular</topic><topic>Complex syndromes</topic><topic>DNA, Complementary - genetics</topic><topic>Embryonic and Fetal Development - genetics</topic><topic>Face - abnormalities</topic><topic>Heart Defects, Congenital - genetics</topic><topic>Humans</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Membrane Proteins - genetics</topic><topic>Mice</topic><topic>Molecular Sequence Data</topic><topic>Sequence Deletion</topic><topic>Sequence Homology, Amino Acid</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sirotkin, Howard</creatorcontrib><creatorcontrib>Morrow, Bernice</creatorcontrib><creatorcontrib>Saint-Jore, Bruno</creatorcontrib><creatorcontrib>Puech, Anne</creatorcontrib><creatorcontrib>Gupta, Ruchira Das</creatorcontrib><creatorcontrib>Patanjali, Sankhavaram R.</creatorcontrib><creatorcontrib>Skoultchi, Arthur</creatorcontrib><creatorcontrib>Weissman, Sherman M.</creatorcontrib><creatorcontrib>Kucherlapati, Raju</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>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>Sirotkin, Howard</au><au>Morrow, Bernice</au><au>Saint-Jore, Bruno</au><au>Puech, Anne</au><au>Gupta, Ruchira Das</au><au>Patanjali, Sankhavaram R.</au><au>Skoultchi, Arthur</au><au>Weissman, Sherman M.</au><au>Kucherlapati, Raju</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification, Characterization, and Precise Mapping of a Human Gene Encoding a Novel Membrane-Spanning Protein from the 22q11 Region Deleted in Velo–Cardio–Facial Syndrome</atitle><jtitle>Genomics (San Diego, Calif.)</jtitle><addtitle>Genomics</addtitle><date>1997-06-01</date><risdate>1997</risdate><volume>42</volume><issue>2</issue><spage>245</spage><epage>251</epage><pages>245-251</pages><issn>0888-7543</issn><eissn>1089-8646</eissn><abstract>Velo–cardio–facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes including cleft palate, conotruncal heart defects, and facial dysmorphology. 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| ispartof | Genomics (San Diego, Calif.), 1997-06, Vol.42 (2), p.245-251 |
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| language | eng |
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| subjects | Abnormalities, Multiple - genetics Adult Amino Acid Sequence Animals Base Sequence Biological and medical sciences Chromosome Mapping Chromosomes, Human, Pair 22 - genetics Claudin-5 Cleft Palate - genetics Cloning, Molecular Complex syndromes DNA, Complementary - genetics Embryonic and Fetal Development - genetics Face - abnormalities Heart Defects, Congenital - genetics Humans Medical genetics Medical sciences Membrane Proteins - genetics Mice Molecular Sequence Data Sequence Deletion Sequence Homology, Amino Acid Syndrome |
| title | Identification, Characterization, and Precise Mapping of a Human Gene Encoding a Novel Membrane-Spanning Protein from the 22q11 Region Deleted in Velo–Cardio–Facial Syndrome |
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