The human ortholog of the rodent testis-specific ABC transporter Abca17 is a ubiquitously expressed pseudogene (ABCA17P) and shares a common 5' end with ABCA3.

Hdl Handle:
The human ortholog of the rodent testis-specific ABC transporter Abca17 is a ubiquitously expressed pseudogene (ABCA17P) and shares a common 5' end with ABCA3.
Piehler, Armin P; Wenzel, Jürgen J; Olstad, Ole K; Haug, Kari Bente Foss; Kierulf, Peter; Kaminski, Wolfgang E
BMC molecular biology 2006, 7:28

Full metadata record

DC FieldValue Language
dc.contributor.authorPiehler, Armin P-
dc.contributor.authorWenzel, Jürgen J-
dc.contributor.authorOlstad, Ole K-
dc.contributor.authorHaug, Kari Bente Foss-
dc.contributor.authorKierulf, Peter-
dc.contributor.authorKaminski, Wolfgang E-
dc.identifier.citationBMC molecular biology 2006, 7:28en
dc.description.abstractBACKGROUND: During the past years, we and others discovered a series of human ATP-binding cassette (ABC) transporters, now referred to as ABC A-subfamily transporters. Recently, a novel testis-specific ABC A transporter, Abca17, has been cloned in rodent. In this study, we report the identification and characterization of the human ortholog of rodent Abca17. RESULTS: The novel human ABC A-transporter gene on chromosome 16p13.3 is ubiquitously expressed with highest expression in glandular tissues and the heart. The new ABC transporter gene exhibits striking nucleotide sequence homology with the recently cloned mouse (58%) and rat Abca17 (51%), respectively, and is located in the syntenic region of mouse Abca17 indicating that it represents the human ortholog of rodent Abca17. However, unlike in the mouse, the full-length ABCA17 transcript (4.3 kb) contains numerous mutations that preclude its translation into a bona fide ABC transporter protein strongly suggesting that the human ABCA17 gene is a transcribed pseudogene (ABCA17P). We identified numerous alternative ABCA17P splice variants which are transcribed from two distinct transcription initiation sites. Genomic analysis revealed that ABCA17P borders on another ABC A-subfamily transporter - the lung surfactant deficiency gene ABCA3. Surprisingly, we found that both genes overlap at their first exons and are transcribed from opposite strands. This genomic colocalization and the observation that the ABCA17P and ABCA3 genes share significant homologies in several exons (up to 98%) suggest that both genes have evolved by gene duplication. CONCLUSION: Our results demonstrate that ABCA17P and ABCA3 form a complex of overlapping genes in the human genome from which both non-coding and protein-coding ABC A-transporter RNAs are expressed. The fact that both genes overlap at their 5' ends suggests interdependencies in their regulation and may have important implications for the functional analysis of the disease gene ABCA3. Moreover, this is the first demonstration of the expression of a pseudogene and its parent gene from a common overlapping DNA region in the human genome.en
dc.subjectVDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714en
dc.subject.meshATP-Binding Cassette Transportersen
dc.subject.meshAlternative Splicingen
dc.subject.meshBase Sequenceen
dc.subject.meshChromosomes, Human, Pair 16en
dc.subject.meshDNA, Complementaryen
dc.subject.meshExpressed Sequence Tagsen
dc.subject.meshGene Duplicationen
dc.subject.meshGenes, Overlappingen
dc.subject.meshMolecular Sequence Dataen
dc.subject.meshMultigene Familyen
dc.subject.meshSequence Alignmenten
dc.subject.meshSequence Homology, Nucleic Aciden
dc.subject.meshSpecies Specificityen
dc.subject.meshTranscription Initiation Siteen
dc.subject.meshTranscription, Geneticen
dc.titleThe human ortholog of the rodent testis-specific ABC transporter Abca17 is a ubiquitously expressed pseudogene (ABCA17P) and shares a common 5' end with ABCA3.en
dc.typeJournal articleen
dc.typepeer revieweden
dc.contributor.departmentR&D Group, Department of Clinical Chemistry, Ulleval University Hospital, 0407 Oslo, Norway. armin.piehler@medisin.uio.noen
dc.contributor.departmentUllevaal University Hospitalen
dc.identifier.journalBMC molecular biologyen
All Items in HeRA are protected by copyright, with all rights reserved, unless otherwise indicated.