TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation
<p>Abstract</p> <p>Background</p> <p>The TM4SF10 gene encodes a putative four-transmembrane domains protein of unknown function termed Brain Cell Membrane Protein 1 (BCMP1), and is abundantly expressed in the brain. This gene is located on the short arm of human chromos...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2004-09-01
|
| Series: | BMC Medical Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2350/5/22 |
| _version_ | 1819225035291754496 |
|---|---|
| author | Holinski-Feder Elke Abramowicz Marc J Gecz Jozef Kooy Frank Christophe-Hobertus Christiane Schwartz Charles Christophe Daniel |
| author_facet | Holinski-Feder Elke Abramowicz Marc J Gecz Jozef Kooy Frank Christophe-Hobertus Christiane Schwartz Charles Christophe Daniel |
| author_sort | Holinski-Feder Elke |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>The TM4SF10 gene encodes a putative four-transmembrane domains protein of unknown function termed Brain Cell Membrane Protein 1 (BCMP1), and is abundantly expressed in the brain. This gene is located on the short arm of human chromosome X at p21.1. The hypothesis that mutations in the TM4SF10 gene are associated with impaired brain function was investigated by sequencing the gene in individuals with hereditary X-linked mental retardation (XLMR).</p> <p>Methods</p> <p>The coding region (543 bp) of TM4SF10, including intronic junctions, and the long 3' untranslated region (3 233 bp), that has been conserved during evolution, were sequenced in 16 male XLMR patients from 14 unrelated families with definite, or suggestive, linkage to the TM4SF10 gene locus, and in 5 normal males.</p> <p>Results</p> <p>Five sequence changes were identified but none was found to be associated with the disease. Two of these changes correspond to previously known SNPs, while three other were novel SNPs in the TM4SF10 gene.</p> <p>Conclusion</p> <p>We have investigated the majority of the known MRX families linked to the TM4SF10 gene region. In the absence of mutations detected, our study indicates that alterations of TM4SF10 are not a frequent cause of XLMR.</p> |
| first_indexed | 2024-12-23T10:03:11Z |
| format | Article |
| id | doaj.art-a8f5b8e9d40d4ab9b3849049af91c28b |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-23T10:03:11Z |
| publishDate | 2004-09-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-a8f5b8e9d40d4ab9b3849049af91c28b2022-12-21T17:51:09ZengBMCBMC Medical Genetics1471-23502004-09-01512210.1186/1471-2350-5-22TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutationHolinski-Feder ElkeAbramowicz Marc JGecz JozefKooy FrankChristophe-Hobertus ChristianeSchwartz CharlesChristophe Daniel<p>Abstract</p> <p>Background</p> <p>The TM4SF10 gene encodes a putative four-transmembrane domains protein of unknown function termed Brain Cell Membrane Protein 1 (BCMP1), and is abundantly expressed in the brain. This gene is located on the short arm of human chromosome X at p21.1. The hypothesis that mutations in the TM4SF10 gene are associated with impaired brain function was investigated by sequencing the gene in individuals with hereditary X-linked mental retardation (XLMR).</p> <p>Methods</p> <p>The coding region (543 bp) of TM4SF10, including intronic junctions, and the long 3' untranslated region (3 233 bp), that has been conserved during evolution, were sequenced in 16 male XLMR patients from 14 unrelated families with definite, or suggestive, linkage to the TM4SF10 gene locus, and in 5 normal males.</p> <p>Results</p> <p>Five sequence changes were identified but none was found to be associated with the disease. Two of these changes correspond to previously known SNPs, while three other were novel SNPs in the TM4SF10 gene.</p> <p>Conclusion</p> <p>We have investigated the majority of the known MRX families linked to the TM4SF10 gene region. In the absence of mutations detected, our study indicates that alterations of TM4SF10 are not a frequent cause of XLMR.</p>http://www.biomedcentral.com/1471-2350/5/22 |
| spellingShingle | Holinski-Feder Elke Abramowicz Marc J Gecz Jozef Kooy Frank Christophe-Hobertus Christiane Schwartz Charles Christophe Daniel TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation BMC Medical Genetics |
| title | TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation |
| title_full | TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation |
| title_fullStr | TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation |
| title_full_unstemmed | TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation |
| title_short | TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation |
| title_sort | tm4sf10 gene sequencing in xlmr patients identifies common polymorphisms but no disease associated mutation |
| url | http://www.biomedcentral.com/1471-2350/5/22 |
| work_keys_str_mv | AT holinskifederelke tm4sf10genesequencinginxlmrpatientsidentifiescommonpolymorphismsbutnodiseaseassociatedmutation AT abramowiczmarcj tm4sf10genesequencinginxlmrpatientsidentifiescommonpolymorphismsbutnodiseaseassociatedmutation AT geczjozef tm4sf10genesequencinginxlmrpatientsidentifiescommonpolymorphismsbutnodiseaseassociatedmutation AT kooyfrank tm4sf10genesequencinginxlmrpatientsidentifiescommonpolymorphismsbutnodiseaseassociatedmutation AT christophehobertuschristiane tm4sf10genesequencinginxlmrpatientsidentifiescommonpolymorphismsbutnodiseaseassociatedmutation AT schwartzcharles tm4sf10genesequencinginxlmrpatientsidentifiescommonpolymorphismsbutnodiseaseassociatedmutation AT christophedaniel tm4sf10genesequencinginxlmrpatientsidentifiescommonpolymorphismsbutnodiseaseassociatedmutation |