title: Genomic organization of the human cholesterol-responsive ABC transporter ABCA7: tandem linkage with the minor histocompatibility antigen HA-1 gene.
abstract: We have recently cloned a novel cholesterol-responsive ABC transporter, designated ABCA7, which is predominantly expressed in human leukocytes. Here we report the structure of the human ABCA7 gene. The ABCA7 gene spans a region of approximately 32 kb and comprises 46 exons. Its putative promoter sequence contains potential binding sites for transcription factors with roles in hematopoiesis and cholesterol metabolism. Surprisingly, sequence analysis of the ABCA7 3' gene flanking region revealed that the terminal exon of ABCA7 borders immediately on the 5' end of the coding region of the recently identified human minor histocompatibility antigen HA-1. We demonstrate that the coding regions of ABCA7 and HA-1 are physically separated by a 1.7-kb intergene region. Subsequent genomic structure analysis showed that the HA-1 gene consists of 23 exons which extend across a 16-kb genomic region. Our results provide evidence that the genes for the human minor histocompatibility antigen HA-1 and the ABC transporter ABCA7 are arranged in a head-to-tail array and that both genes localize to a common locus of approximately 48 kb size on chromosome 19p13.3.
authors.affiliation: Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Franz-Josef-Strauss-Allee 11, Regensburg, D-93042, Germany. gerd.schmitz@klinik.uni-regensburg.de
authors.forename: W E
authors.initials: WE
authors.lastname: Kaminski
authors.forename: A
authors.initials: A
authors.lastname: Piehler
authors.forename: G
authors.initials: G
authors.lastname: Schmitz
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D001483:Base Sequence; D001665:Binding Sites; D002784:Cholesterol / Q000502:physiology*; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D005091:Exons; D008040:Genetic Linkage; D006801:Humans; D007438:Introns; D015778:Minor Histocompatibility Antigens / Q000235:genetics*; D008969:Molecular Sequence Data; D009842:Oligopeptides / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014157:Transcription Factors / Q000378:metabolism
chemical_list: C411895:ABCA7 protein, human; D018528:ATP-Binding Cassette Transporters; C110615:HA-1 antigen; D015778:Minor Histocompatibility Antigens; D009842:Oligopeptides; D014157:Transcription Factors; D002784:Cholesterol