Complete Coding Sequence, Promoter Region, and Genomic Structure of the Human ABCA2 Gene and Evidence for Sterol-Dependent Regulation in Macrophages

Kaminski, Wolfgang E.; Piehler, Armin; Püllmann, Kerstin; Porsch-Özçürümez, Mustafa; Duong, Chinh Quoc; Bared, Guido Maa; Büchler, Christa; Schmitz, Gerd

doi:10.1006/bbrc.2001.4305

Cited by 76 publications

(95 citation statements)

References 38 publications

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“…The results obtained with our assay are consistent with those obtained in Northern blot and in situ hybridization studies with single ABC molecules (2,18,19,(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33), suggesting that real-time PCR is a reliable method to quantify ABC transporter gene expression. Moreover, the good concordance with earlier reports is particularly reflected by the expression pattern of ABC transporters with a very narrow expression profile.…”

Section: Discussionsupporting

confidence: 86%

Real-Time Reverse Transcription-PCR Expression Profiling of the Complete Human ATP-Binding Cassette Transporter Superfamily in Various Tissues

et al. 2003

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Background: ATP-binding cassette (ABC) transporters are involved in many physiologic processes, such as lipid transport, sterol homeostasis, immune mechanisms, and drug transport, and cause various human inherited diseases. Thus, the analysis of ABC transporter mRNA expression profiles for basic research, especially in the field of lipid metabolism, for clinical diagnosis, and for monitoring of drug effects is of great interest. Methods: We have developed a rapid, accurate, and highly sensitive real-time reverse transcription-PCR (RT-PCR) method for detection and quantification of all 47 currently known members of the ABC transporter superfamily. Our expression analysis is based on relative quantification using a calibration curve method. With our assay, expression monitoring of a large number of RNA samples in a 384-well format with only 50 ng of total RNA is possible. Results: In contrast to previous expression analyses of single ABC genes, our method allows the rapid and complete analysis of all ABC transporters in given RNA samples. We used our newly established expression panel to study the gene expression of all human ABC transporters in 20 different human tissues. As a result, we identified tissues with high transcriptional activity for ABC transporters. These organs are mainly involved

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Section: Discussionsupporting

confidence: 86%

Real-Time Reverse Transcription-PCR Expression Profiling of the Complete Human ATP-Binding Cassette Transporter Superfamily in Various Tissues

et al. 2003

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“…The human ABCA2 protein consists of 2,436 amino acids and has a molecular mass of approximately 250 kDa [22]. As mentioned above, ABCA2 is located on chromosome 9q close to ABCA1, a protein involved in cellular cholesterol efflux (see review by G. Chimini in this issue).…”

Section: Abca2mentioning

confidence: 98%

“…Both genes share a high degree of homology, strongly suggesting a duplication event during evolution [32]. Interestingly, the ABCA2 gene presents an unusually compact structure, spanning only 21 kb, instead of the average 32-250 kb of other full-transporters [22]. The protein structure of ABCA2 is also similar to ABCA1: the protein contains two symmetrical halves and, between them, a long cytoplasmic regulatory domain interrupted by a stretch of highly hydrophobic residues (HH1; Fig.…”

Section: Abca2mentioning

confidence: 99%

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The ABCA subfamily—gene and protein structures, functions and associated hereditary diseases

Albrecht¹,

Viturro²

2006

Pflugers Arch - Eur J Physiol

106

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To date, 12 members of the human ABCA subfamily are identified. They share a high degree of sequence conservation and have been mostly related with lipid trafficking in a wide range of body locations. Mutations in some of these genes have been described to cause severe hereditary diseases related with lipid transport, such as fatal surfactant deficiency or harlequin ichthyosis. In addition, most of them are hypothesized to participate in the subcellular sequestration of drugs, thereby being responsible for the resistance of several carcinoma cell lines against drug treatment. The objective of this review is to summarize the literature for this subfamily of ABC transporter proteins, excluding ABCA1 and ABCA4, which will be discussed in other chapters of this issue.

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“…If the fox gingival tissues are similar to the canine counterpart then the down-regulation of the ABCA5 gene may be in response to the already hypertrophied androgen-sensitive gingival tissue. ABCA6 is responsive to cholesterol concentrations and is up-regulated during macrophage differentiation (Kaminski et al, 2001). The up-regulation of ABCA6 in the HHG-affected foxes could be related to disease etiology, although it is plausible that it may be up-regulated as part of an inflammatory response in the gingival tissue leading to an increase in macrophage differentiation.…”

Section: Comparison Of Hhg Microarray Gene Lists To Chromosomal Loci mentioning

confidence: 99%

Genomic analysis of gum disease and hypertrichosis in foxes

2016

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Complete Coding Sequence, Promoter Region, and Genomic Structure of the Human ABCA2 Gene and Evidence for Sterol-Dependent Regulation in Macrophages

Cited by 76 publications

References 38 publications

Real-Time Reverse Transcription-PCR Expression Profiling of the Complete Human ATP-Binding Cassette Transporter Superfamily in Various Tissues

Real-Time Reverse Transcription-PCR Expression Profiling of the Complete Human ATP-Binding Cassette Transporter Superfamily in Various Tissues

The ABCA subfamily—gene and protein structures, functions and associated hereditary diseases

Genomic analysis of gum disease and hypertrichosis in foxes

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