Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8

Journal of Human Genetics

Volumn 47, Issue 6, 2002, Pages 285-310

  Iida, A ^a   Saito, S ^a   Sekine, A ^a   Mishima, C ^a   Kitamura, Y ^a   Kondo, K ^a   Harigae, S ^a   Osawa, S ^a   Nakamura, Y ^a,b  

^a RIKEN   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

Author keywords

ATP binding cassette transporter genes; High density SNP maps; Insertion deletion polymorphisms; Japanese population; Single nucleotide polymorphisms (SNPs)

Indexed keywords

ABC TRANSPORTER; DNA; PRIMER DNA;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; DNA FLANKING REGION; DRUG METABOLISM; EXON; GENE LOCUS; GENE MAPPING; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; INTRON; JAPAN; NUCLEOTIDE SEQUENCE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; BLOOD; CHEMISTRY; DNA SEQUENCE; GENE DELETION; GENETICS; ISOLATION AND PURIFICATION; MULTIGENE FAMILY; POLYMERASE CHAIN REACTION; PUBLICATION; UNTRANSLATED REGION;

ATP-BINDING CASSETTE TRANSPORTERS; CATALOGS; DNA; DNA PRIMERS; EXONS; GENE DELETION; HUMAN; INTRONS; JAPAN; MULTIGENE FAMILY; POLYMERASE CHAIN REACTION; POLYMORPHISM (GENETICS); POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; UNTRANSLATED REGIONS; VARIATION (GENETICS); HUMANS; POLYMORPHISM, GENETIC;

INSERTION SEQUENCES;

EID: 0035987003     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380200041     Document Type: Article

References (56)

1. Characterization of the human ABC superfamily: Isolation and mapping of 21 new genes using the expressed sequence tags database
2. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
3. A human placenta-specific ATP-binding cassette gene (ABCP) on chromosome 4q22 that is involved in multidrug resistance
4. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters
5. Cloning and characterization of a RNAse L inhibitor. A new component of the interferon-regulated 2-5A pathway
6. The ABCA subclass of mammalian transporters
7. Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3
8. Isolation and characterization of a mammalian homolog of the Drosophila white gene
9. The human ATP-binding cassette (ABC) transporter superfamily
10. Mutations in the adrenoleukodystrophy gene
11. A multidrug resistance transporter from human MCF-7 breast cancer cells
12. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
13. Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange
14. The human ABCG4 gene is regulated by oxysterols and retinoids in monocyte-derived macrophages
15. Interferon action: RNA cleavage pattern of a (2′-5′) oligoadenylate-dependent endonuclease
16. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome
17. Single nucleotide polymorphisms as tools in human genetics
18. A dominant negative mutant of 2-5A-dependent RNase suppresses antiproliferative and antiviral effects of interferon
19. Primary structure of human PMP69, a putative peroxisomal ABC-transporter
20. Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia
21. Catalog of 320 single nucleotide polymorphisms (SNPs) in 20 oxidoreductase and sulfotransferae genes
22. Catalog of 434 single nucleotide polymorphisms (SNPs) in the alcohol dehydrogenase genes, glutathione S transferase genes, and NADH ubiquinone oxidoreductase genes
23. High-density single-nucleotide polymorphism (SNP) map of the 150-kb region corresponding to the human ATP-binding cassette transporter A1 (ABCA1) gene
24. Catalog of 46 single-nucleotide polymorphisms (SNPs) in the microsomal glutathione S-transferase 1 (MGST1) gene
25. Catalog of 258 single-nucleotide polymorphisms (SNPs) in genes encoding three organic anion transporters, three organic anion-transporting polypeptides, and three NADH:ubiquinone oxidoreductase flavoproteins
26. Catalog of 77 single-nucleotide polymorphisms (SNPs) in the carbohydrate sulfotransferase 1 (CHST1) and carbohydrate sulfotransferase 3 (CHST3) genes
27. Thirteen single-nucleotide polymorphisms (SNPs) in the alcohol dehydrogenase 4 (ADH4) gene locus
28. Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7)
29. Characterization of the human ABCG1 gene: Liver X receptor activates an internal promoter that produces a novel transcript encoding an alternative form of the protein
30. An inventory of the human ABC proteins
31. ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport
32. Genetic basis of sitosterolemia
33. The multidrug-resistant phenotype associated with overexpression of the new ABC half-transporter, MXR (ABCG2)
34. Two genes that map to the STSL locus cause sitosterolemia: Genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively
35. The 2588G→C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
36. The use of single-nucleotide polymorphism maps in pharmacogenomics
37. Pharmacogenetics and adverse drug reactions
38. Molecular cloning of cDNAs which are highly overexpressed in mitoxantrone-resistant cells: Demonstration of homology to ABC transport genes
39. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
40. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro
41. PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
42. Regulation of absorption and ABC1-mediated efflux of cholesterol by RXR heterodimers
43. ABC50, a novel human ATP-binding cassette protein found in tumor necrosis factor-alpha-stimulated synoviocytes
44. Overexpression of the ATP-binding cassette half-transporter, ABCG2 (Mxr/BCrp/ABCP1), in flavopiridol-resistant human breast cancer cells
45. Pharmacogenetics and the practice of medicine
46. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
47. Seventy genetic variations in human microsomal and soluble epoxide hydrolase genes (EPHX1 and EPHX2) in the Japanese population
48. Identification of 197 genetic variations in six human methyltranferase genes in the Japanese population
49. Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population
50. Identification of 779 genetic variations in eight genes encoding members of the ATP-binding cassette, subfamily C (ABCC/MRP/CFTR)
51. Identification of single-nucleotide polymorphisms (SNPs) of human N-acetyltransferase genes NAT1, NAT2, AANAT, ARD1 and LICAM in the Japanese population
52. Identification of a fourth half ABC transporter in the human peroxisomal membrane
53. ABC50 interacts with eukaryotic initiation factor 2 and associates with the ribosome in an ATP-dependent manner
54. Human white/murine ABC8 mRNA levels are highly induced in lipid-loaded macrophages. A transcriptional role for specific oxysterols
55. Transcriptional regulation of interferon-stimulated genes
56. Expression cloning of 2-5A-dependent RNase: A uniquely regulated mediator of interferon action