Identifying and characterizing a five‐gene cluster of ATP‐binding cassette transporters mapping to human chromosome 17q24: a new subgroup within the ABCA subfamily

Arnould, Isabelle; Prades, Catherine; Triunfol, Marcia; Schneider, Thomas D.; Maintoux, Christelle; Lemoine, C.; Debono, Delphine; Devaud, Catherine; Naudin, Laurent; Bauché, Stéphanie; Annat, Mélanie; Annilo, Tarmo; Allikmets, Rando; Gold, Bert; Denèfle, Patrice; Rosier, Marie; Dean, Michael

doi:10.1046/j.1466-920x.2001.00038.x

Cited by 21 publications

(13 citation statements)

References 36 publications

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“…Given this observation and in accordance with the currently proposed nomenclature for human ABC transporters, the novel protein was designated ABCA9. During the preparation of this manuscript, a study came to our attention demonstrating the identification of several ABC transporters on chromosome 17q24 [25]. Among others, a cDNA was reported for ABCA9 that is largely identical with, but at the 5 0 end, 45 bp shorter than the ABCA9 mRNA reported here.…”

Section: Abca9 Cdna and Predicted Polypeptide Structurementioning

confidence: 55%

Molecular structure of a novel cholesterol-responsive A subclass ABC transporter, ABCA9

Piehler

Kaminski

Wenzel

et al. 2002

Biochemical and Biophysical Research Communications

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We recently identified a novel ABC A subclass transporter, ABCA6, in human macrophages. Here, we report the molecular cloning of an additional ABC A subfamily transporter from macrophages denoted ABCA9. The identified coding sequence is 4.9 kb in size and codes for a 1624 amino acid protein product. In accordance with the proposed nomenclature, the novel transporter was designated ABCA9. The putative full-length ABC transporter polypeptide consists of two transmembrane domains and two nucleotide binding folds and thus conforms to the group of full-size ABC transporters. We identified alternative ABCA9 mRNA variants in human macrophages that predict the existence of three truncated forms of the novel transporter. Among the human ABC A subfamily transporters, ABCA9 exhibits the highest amino acid sequence homology with ABCA8 (72%) and ABCA6 (60%), respectively. The striking amino acid sequence similarity between these transporter molecules supports the notion that they represent an evolutionary more recently emerged subgroup within the family of ABC A transporters, which we refer to as ''ABCA6-like transporters.'' ABCA9 mRNA is ubiquitously expressed with the highest mRNA levels in heart, brain, and fetal tissues. Analysis of the genomic structure revealed that the ABCA9 gene consists of 39 exons that are located within a genomic region of $85 kb size on chromosome 17q24.2. In human macrophages, ABCA9 mRNA is induced during monocyte differentiation into macrophages and suppressed by cholesterol import indicating that ABCA9, like other known ABC A subfamily transporters, is a cholesterol-responsive gene. Based on this information, ABCA9 is likely involved in monocyte differentiation and macrophage lipid homeostasis. Ó

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Section: Abca9 Cdna and Predicted Polypeptide Structurementioning

confidence: 55%

Molecular structure of a novel cholesterol-responsive A subclass ABC transporter, ABCA9

Piehler

Kaminski

Wenzel

et al. 2002

Biochemical and Biophysical Research Communications

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“…of 293 kDa making it one of the largest ABC proteins described to date. Phylogenetic analysis revealed that the known members of the ABCA subfamily can be divided into two distinct subgroups with the ABCA5, ABCA6, ABCA8, ABCA9 and ABCA10 cluster on chromosome 17 forming a distinct clade (Arnould et al, 2001;Annilo et al, 2003). ABCA12 and the newly described ABCA13 are related to each other and form an early branch off of the main cluster of ABCA genes.…”

Section: Discussionmentioning

confidence: 99%

Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34

Annilo

Shulenin

Chen

et al. 2002

Cytogenet Genome Res

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The ABCA subfamily of ABC transporters includes ten members to date. In this study, we describe an additional gene, ABCA12. Four full-length cDNA sequences have been obtained from human placenta that contain two different polyadenylation sites and two splicing forms, coding for ABCA12 isoforms of 2,595 and 2,516 amino acid residues. Both isoforms are predicted to have two ATP-binding domains (nucleotide binding domain, NBD) and two transmembrane (TM) domains, features shared by all other ABCA subfamily proteins. ABCA12 is most closely related to ABCA1, with an amino acid similarity of 47%. Northern blot analysis demonstrates that a 9.5-kb transcript is mainly expressed in the stom- ach. ABCA12 was mapped to human chromosome 2q34. Two other genes from ABCA subfamily are associated with human inherited diseases, ABCA1 with the cholesterol transport disorders Tangier disease and familial hypoalphalipoproteinemia, and ABCA4 with several retinal degeneration disorders. The ABCA12 gene is located in a region of chromosome 2q34 that harbors the genes for lamellar ichthyosis, polymorphic congenital cataract, and insulin-dependent diabetes mellitus (IDDM13), and therefore is a positional candidate for these pathologies.

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“…Moreover, with the exception of ABCA5, the five members of the cluster show a high amino acid identity (up to 78%) [4], which is not found when these genes are compared with other members of the ABCA subfamily (around 30% in most cases). This led to the subdivision of this subfamily into two distinct subgroups.…”

Section: Abca7mentioning

confidence: 92%

“…Eight members of the subfamily are located dispersedly in the genome, while ABCA5, ABCA6, ABCA8, ABCA9, and ABCA10 are arranged in a chromosome cluster on mouse chromosome 11 [2] and human chromosome 17 [4].…”

Section: Abca7mentioning

confidence: 99%

“…Excluding ABCA14-A17 proteins that have been only cloned in rodents [5,12], the human ABCA subfamily is composed of 12 members and divided into two subgroups. One subgroup is formed by five genes, ABCA5, A6, A8, A9, and A10, that are located in a cluster on human chromosome 17 [4]. In addition to this special gene arrangement, the five members of this cluster present a series of structural differences not only as compared to the second subgroup of the A-family of ABC transporters, that is located dispersedly in the genome, but also in comparison to other known ABC transporters.…”

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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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Identifying and characterizing a five‐gene cluster of ATP‐binding cassette transporters mapping to human chromosome 17q24: a new subgroup within the ABCA subfamily

Cited by 21 publications

References 36 publications

Molecular structure of a novel cholesterol-responsive A subclass ABC transporter, ABCA9

Molecular structure of a novel cholesterol-responsive A subclass ABC transporter, ABCA9

Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34

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

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