Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene
Previously we identified and cloned the cDNA for a new protein, apolipoprotein L (apoL), present in plasma and mainly associated with large high density lipoprotein particles. Using 5′ rapid amplification of cDNA ends, RT-PCR and comparison with three Human Genome Project and three expressed sequenc...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2001-04-01
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| Series: | Journal of Lipid Research |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0022227520303813 |
| _version_ | 1818740270594785280 |
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| author | Philippe N. Duchateau Clive R. Pullinger Min H. Cho Celeste Eng John P. Kane |
| author_facet | Philippe N. Duchateau Clive R. Pullinger Min H. Cho Celeste Eng John P. Kane |
| author_sort | Philippe N. Duchateau |
| collection | DOAJ |
| description | Previously we identified and cloned the cDNA for a new protein, apolipoprotein L (apoL), present in plasma and mainly associated with large high density lipoprotein particles. Using 5′ rapid amplification of cDNA ends, RT-PCR and comparison with three Human Genome Project and three expressed sequence tag sequences, we have characterized the gene for apoL and for three additional, highly homologous proteins that constitute a new family of proteins that display no homology with previously described apolipoproteins. The genes for all four proteins, apoL-I, apoL-II, apoL-III, and apoL-IV, are located at chromosome 22q12.1-13.1 within a 127,000-bp region. The apoL-I gene is in the opposite orientation to the other three. All four genes have TATA-less promoters, which contain putative sterol regulatory elements, suggesting that transcription of these genes may be coordinated with that of the low density lipoprotein receptor and genes in pathways involving the synthesis of triglycerides and cholesterol. The gene family has a consensus eight-exon structure with alternative splice sites that could produce as many as eight distinct gene products. The apoL-II and apoL-III genes have alternative transcriptional start sites as a result of additional 5′ exons. apoL-I, apoL-II, and apoL-III are expressed to the highest degree in the lung. Other tissues with high expression are the pancreas, prostate, spleen, liver, and placenta. Four clustered common polymorphisms, three of which altered the protein sequence, were found in apoL-I, all in linkage disequilibrium, and describing two haplotypes: the more common Lys166/Ile244/Lys271 and the rarer Glu166/Met244/Arg271. —Duchateau, P. N., C. R. Pullinger, M. H. Cho, C. Eng, and J. P. Kane. Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene. J. Lipid Res. 2001. 42: 620–630. |
| first_indexed | 2024-12-18T01:38:04Z |
| format | Article |
| id | doaj.art-bacb7b72bfff4c89badcbe9e3d9040e2 |
| institution | Directory Open Access Journal |
| issn | 0022-2275 |
| language | English |
| last_indexed | 2024-12-18T01:38:04Z |
| publishDate | 2001-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Lipid Research |
| spelling | doaj.art-bacb7b72bfff4c89badcbe9e3d9040e22022-12-21T21:25:25ZengElsevierJournal of Lipid Research0022-22752001-04-01424620630Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new genePhilippe N. Duchateau0Clive R. Pullinger1Min H. Cho2Celeste Eng3John P. Kane4Cardiovascular Research Institute, University of California, San Francisco, CA 94143-0130; To whom correspondence should be addressed.Cardiovascular Research Institute, University of California, San Francisco, CA 94143-0130Cardiovascular Research Institute, University of California, San Francisco, CA 94143-0130Cardiovascular Research Institute, University of California, San Francisco, CA 94143-0130Department of Medicine, University of California, San Francisco, CA 94143-0130; Department of Biochemistry and Biophysics, University of California, San Francisco, CA 94143-0130Previously we identified and cloned the cDNA for a new protein, apolipoprotein L (apoL), present in plasma and mainly associated with large high density lipoprotein particles. Using 5′ rapid amplification of cDNA ends, RT-PCR and comparison with three Human Genome Project and three expressed sequence tag sequences, we have characterized the gene for apoL and for three additional, highly homologous proteins that constitute a new family of proteins that display no homology with previously described apolipoproteins. The genes for all four proteins, apoL-I, apoL-II, apoL-III, and apoL-IV, are located at chromosome 22q12.1-13.1 within a 127,000-bp region. The apoL-I gene is in the opposite orientation to the other three. All four genes have TATA-less promoters, which contain putative sterol regulatory elements, suggesting that transcription of these genes may be coordinated with that of the low density lipoprotein receptor and genes in pathways involving the synthesis of triglycerides and cholesterol. The gene family has a consensus eight-exon structure with alternative splice sites that could produce as many as eight distinct gene products. The apoL-II and apoL-III genes have alternative transcriptional start sites as a result of additional 5′ exons. apoL-I, apoL-II, and apoL-III are expressed to the highest degree in the lung. Other tissues with high expression are the pancreas, prostate, spleen, liver, and placenta. Four clustered common polymorphisms, three of which altered the protein sequence, were found in apoL-I, all in linkage disequilibrium, and describing two haplotypes: the more common Lys166/Ile244/Lys271 and the rarer Glu166/Met244/Arg271. —Duchateau, P. N., C. R. Pullinger, M. H. Cho, C. Eng, and J. P. Kane. Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene. J. Lipid Res. 2001. 42: 620–630.http://www.sciencedirect.com/science/article/pii/S0022227520303813HDLalternative splicinglipoproteinchromosome 22 |
| spellingShingle | Philippe N. Duchateau Clive R. Pullinger Min H. Cho Celeste Eng John P. Kane Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene Journal of Lipid Research HDL alternative splicing lipoprotein chromosome 22 |
| title | Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene |
| title_full | Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene |
| title_fullStr | Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene |
| title_full_unstemmed | Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene |
| title_short | Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene |
| title_sort | apolipoprotein l gene family tissue specific expression splicing promoter regions discovery of a new gene |
| topic | HDL alternative splicing lipoprotein chromosome 22 |
| url | http://www.sciencedirect.com/science/article/pii/S0022227520303813 |
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