Human <it>CCS</it> gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS)
<p>Abstract</p> <p>Background</p> <p>Amyotrophic lateral sclerosis (ALS) is a progressive lethal disorder of large motor neurons of the spinal cord and brain. In approximately 20% of the familial and 2% of sporadic cases the disease is due to a defect in the gene encodi...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2002-04-01
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| Series: | BMC Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2156/3/5 |
| _version_ | 1818041029364809728 |
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| author | Tommerup Niels Petersen Michael B Werdelin Lene Panas Marios Gredal Ole Brondum-Nielsen Karen Silahtaroglu Asli N Tümer Zeynep |
| author_facet | Tommerup Niels Petersen Michael B Werdelin Lene Panas Marios Gredal Ole Brondum-Nielsen Karen Silahtaroglu Asli N Tümer Zeynep |
| author_sort | Tommerup Niels |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Amyotrophic lateral sclerosis (ALS) is a progressive lethal disorder of large motor neurons of the spinal cord and brain. In approximately 20% of the familial and 2% of sporadic cases the disease is due to a defect in the gene encoding the cytosolic antioxidant enzyme Cu, Zn-superoxide dismutase (SOD1). The underlying molecular defect is known only in a very small portion of the remaining cases and therefore involvement of other genes is likely. As SOD1 receives copper, essential for its normal function, by the copper chaperone, CCS (Copper Chaperone for SOD), we considered <it>CCS</it> as a potential candidate gene for ALS.</p> <p>Results</p> <p>We have characterized the genomic organization of <it>CCS</it> and determined exon-intron boundaries. The 823 bp coding region of the <it>CCS</it> is organized in 8 exons. We have evaluated involvement of the <it>CCS</it> in ALS by sequencing the entire coding region for mutations in 20 sporadic ALS patients.</p> <p>Conclusions</p> <p>No causative mutations for the ALS have been detected in the <it>CCS</it> gene in 20 sporadic ALS patients analyzed, but an intragenic single nucleotide polymorphism has been identified.</p> |
| first_indexed | 2024-12-10T08:23:55Z |
| format | Article |
| id | doaj.art-cdd930fe08d9497ca46aa3beb2dfb812 |
| institution | Directory Open Access Journal |
| issn | 1471-2156 |
| language | English |
| last_indexed | 2024-12-10T08:23:55Z |
| publishDate | 2002-04-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Genetics |
| spelling | doaj.art-cdd930fe08d9497ca46aa3beb2dfb8122022-12-22T01:56:16ZengBMCBMC Genetics1471-21562002-04-0131510.1186/1471-2156-3-5Human <it>CCS</it> gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS)Tommerup NielsPetersen Michael BWerdelin LenePanas MariosGredal OleBrondum-Nielsen KarenSilahtaroglu Asli NTümer Zeynep<p>Abstract</p> <p>Background</p> <p>Amyotrophic lateral sclerosis (ALS) is a progressive lethal disorder of large motor neurons of the spinal cord and brain. In approximately 20% of the familial and 2% of sporadic cases the disease is due to a defect in the gene encoding the cytosolic antioxidant enzyme Cu, Zn-superoxide dismutase (SOD1). The underlying molecular defect is known only in a very small portion of the remaining cases and therefore involvement of other genes is likely. As SOD1 receives copper, essential for its normal function, by the copper chaperone, CCS (Copper Chaperone for SOD), we considered <it>CCS</it> as a potential candidate gene for ALS.</p> <p>Results</p> <p>We have characterized the genomic organization of <it>CCS</it> and determined exon-intron boundaries. The 823 bp coding region of the <it>CCS</it> is organized in 8 exons. We have evaluated involvement of the <it>CCS</it> in ALS by sequencing the entire coding region for mutations in 20 sporadic ALS patients.</p> <p>Conclusions</p> <p>No causative mutations for the ALS have been detected in the <it>CCS</it> gene in 20 sporadic ALS patients analyzed, but an intragenic single nucleotide polymorphism has been identified.</p>http://www.biomedcentral.com/1471-2156/3/5 |
| spellingShingle | Tommerup Niels Petersen Michael B Werdelin Lene Panas Marios Gredal Ole Brondum-Nielsen Karen Silahtaroglu Asli N Tümer Zeynep Human <it>CCS</it> gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS) BMC Genetics |
| title | Human <it>CCS</it> gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS) |
| title_full | Human <it>CCS</it> gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS) |
| title_fullStr | Human <it>CCS</it> gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS) |
| title_full_unstemmed | Human <it>CCS</it> gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS) |
| title_short | Human <it>CCS</it> gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS) |
| title_sort | human it ccs it gene genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis als |
| url | http://www.biomedcentral.com/1471-2156/3/5 |
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