Discovery of a null mutation in a human trace amine receptor gene
G-protein-coupled receptors (GPCRs) are important mediators of signal transduction, and mutations in GPCR-encoding genes can lead to disease states. Here we describe a null mutation in an orphan GPCR-encoding gene that is predicted to inactivate completely the encoded receptor. The TA 3 receptor is...
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| Veröffentlicht in: | Genomics (San Diego, Calif.) Calif.), 2003-11, Vol.82 (5), p.531-536 |
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| container_title | Genomics (San Diego, Calif.) |
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| creator | Vanti, William B Muglia, Pierandrea Nguyen, Tuan Cheng, Regina Kennedy, James L George, Susan R O'Dowd, Brian F |
| description | G-protein-coupled receptors (GPCRs) are important mediators of signal transduction, and mutations in GPCR-encoding genes can lead to disease states. Here we describe a null mutation in an orphan GPCR-encoding gene that is predicted to inactivate completely the encoded receptor. The TA
3 receptor is a putative member of the recently described mammalian trace amine receptor family, and it is expressed in the pituitary gland and skeletal muscle. We tested for the presence of the mutant form of
TA
3
(named
TA
3
-TR) in a normal population, as well as in two disease groups (ADHD and bipolar affective disorder). We found
TA
3
-TR to be commonly expressed in all groups, with ∼20% allele frequency. We did not find any statistically significant correlation between either disease and the presence of
TA
3
-TR. |
| doi_str_mv | 10.1016/S0888-7543(03)00173-3 |
| format | Article |
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3 receptor is a putative member of the recently described mammalian trace amine receptor family, and it is expressed in the pituitary gland and skeletal muscle. We tested for the presence of the mutant form of
TA
3
(named
TA
3
-TR) in a normal population, as well as in two disease groups (ADHD and bipolar affective disorder). We found
TA
3
-TR to be commonly expressed in all groups, with ∼20% allele frequency. We did not find any statistically significant correlation between either disease and the presence of
TA
3
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3 receptor is a putative member of the recently described mammalian trace amine receptor family, and it is expressed in the pituitary gland and skeletal muscle. We tested for the presence of the mutant form of
TA
3
(named
TA
3
-TR) in a normal population, as well as in two disease groups (ADHD and bipolar affective disorder). We found
TA
3
-TR to be commonly expressed in all groups, with ∼20% allele frequency. We did not find any statistically significant correlation between either disease and the presence of
TA
3
-TR.</description><subject>ADHD</subject><subject>Amino Acid Sequence</subject><subject>Biological and medical sciences</subject><subject>Bipolar disorder</subject><subject>Cell receptors</subject><subject>Cell structures and functions</subject><subject>Codon, Nonsense</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Frequency</subject><subject>Genes. Genome</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>GPCR</subject><subject>Humans</subject><subject>Miscellaneous</subject><subject>Molecular and cellular biology</subject><subject>Molecular genetics</subject><subject>Molecular Sequence Data</subject><subject>Null mutation</subject><subject>Receptors, G-Protein-Coupled - genetics</subject><subject>TA3 gene</subject><subject>Trace amine receptor</subject><subject>trace amine receptors</subject><issn>0888-7543</issn><issn>1089-8646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkF1LHTEQhoO06Kn6Eyy5qbQXqzPJfmSvRGyrBcEL9Tpkk9k2ZTd7muwK_ntzPId6KQwMDM_MvDyMnSCcIWB9fg9KqaKpSvkV5DcAbGQh99gKQbWFqsv6A1v9Rw7Yp5T-AkArldhnB1hWVSsQVuzyu092eqL4zKeeGx6WYeDjMpvZT4H7kEd_ltEEPkdjiZvRB-KRLK3nKfLfFOiIfezNkOh41w_Z488fD1c3xe3d9a-ry9vClkLMhRHQkkPZC1k75VophADTK-mwq7sS2wYRJfYOa-xUSWWlnKosycp0TnYkD9np9u46Tv8WSrMec3QaBhNoWpJuUNSqKeFdEFtUUjZNBqstaOOUUqRer6MfTXzWCHojWb9K1huDGnJtJGuZ9z7vHizdSO5ta2c1A192gEnWDH00wfr0xlUCEEBl7mLLUfb25CnqZD0FS85nxbN2k38nygtB85cG</recordid><startdate>20031101</startdate><enddate>20031101</enddate><creator>Vanti, William B</creator><creator>Muglia, Pierandrea</creator><creator>Nguyen, Tuan</creator><creator>Cheng, Regina</creator><creator>Kennedy, James L</creator><creator>George, Susan R</creator><creator>O'Dowd, Brian F</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>20031101</creationdate><title>Discovery of a null mutation in a human trace amine receptor gene</title><author>Vanti, William B ; Muglia, Pierandrea ; Nguyen, Tuan ; Cheng, Regina ; Kennedy, James L ; George, Susan R ; O'Dowd, Brian F</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c422t-a209ed13f236d8d932220af83d1b6b419711131fd161b84e458d85ce35abd3be3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>ADHD</topic><topic>Amino Acid Sequence</topic><topic>Biological and medical sciences</topic><topic>Bipolar disorder</topic><topic>Cell receptors</topic><topic>Cell structures and functions</topic><topic>Codon, Nonsense</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Frequency</topic><topic>Genes. Genome</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>GPCR</topic><topic>Humans</topic><topic>Miscellaneous</topic><topic>Molecular and cellular biology</topic><topic>Molecular genetics</topic><topic>Molecular Sequence Data</topic><topic>Null mutation</topic><topic>Receptors, G-Protein-Coupled - genetics</topic><topic>TA3 gene</topic><topic>Trace amine receptor</topic><topic>trace amine receptors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Vanti, William B</creatorcontrib><creatorcontrib>Muglia, Pierandrea</creatorcontrib><creatorcontrib>Nguyen, Tuan</creatorcontrib><creatorcontrib>Cheng, Regina</creatorcontrib><creatorcontrib>Kennedy, James L</creatorcontrib><creatorcontrib>George, Susan R</creatorcontrib><creatorcontrib>O'Dowd, Brian F</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>Vanti, William B</au><au>Muglia, Pierandrea</au><au>Nguyen, Tuan</au><au>Cheng, Regina</au><au>Kennedy, James L</au><au>George, Susan R</au><au>O'Dowd, Brian F</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Discovery of a null mutation in a human trace amine receptor gene</atitle><jtitle>Genomics (San Diego, Calif.)</jtitle><addtitle>Genomics</addtitle><date>2003-11-01</date><risdate>2003</risdate><volume>82</volume><issue>5</issue><spage>531</spage><epage>536</epage><pages>531-536</pages><issn>0888-7543</issn><eissn>1089-8646</eissn><abstract>G-protein-coupled receptors (GPCRs) are important mediators of signal transduction, and mutations in GPCR-encoding genes can lead to disease states. Here we describe a null mutation in an orphan GPCR-encoding gene that is predicted to inactivate completely the encoded receptor. The TA
3 receptor is a putative member of the recently described mammalian trace amine receptor family, and it is expressed in the pituitary gland and skeletal muscle. We tested for the presence of the mutant form of
TA
3
(named
TA
3
-TR) in a normal population, as well as in two disease groups (ADHD and bipolar affective disorder). We found
TA
3
-TR to be commonly expressed in all groups, with ∼20% allele frequency. We did not find any statistically significant correlation between either disease and the presence of
TA
3
-TR.</abstract><cop>San Diego, CA</cop><pub>Elsevier Inc</pub><pmid>14559210</pmid><doi>10.1016/S0888-7543(03)00173-3</doi><tpages>6</tpages></addata></record> |
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| subjects | ADHD Amino Acid Sequence Biological and medical sciences Bipolar disorder Cell receptors Cell structures and functions Codon, Nonsense Fundamental and applied biological sciences. Psychology Gene Frequency Genes. Genome Genetics of eukaryotes. Biological and molecular evolution GPCR Humans Miscellaneous Molecular and cellular biology Molecular genetics Molecular Sequence Data Null mutation Receptors, G-Protein-Coupled - genetics TA3 gene Trace amine receptor trace amine receptors |
| title | Discovery of a null mutation in a human trace amine receptor gene |
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