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Organization and expression of the SLC36 cluster of amino acid transporter genes

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Abstract

Three closely related genes encoding amino acid transport proteins are clustered on 5q32 in humans, and Chromosome (Chr) 11 in mice. The human SLC36A1 gene, which encodes the lysosomal amino acid transporter LYAAT1/PAT1, generates multiple alternative mRNAs, some of which encode truncated proteins. SLC36A1 is expressed in numerous tissues, whereas expression of SLC36A2, which encodes the glycine transporter tramdorin1/PAT2, is most abundant in kidney and muscle. Expression of a third gene, SLC36A3, is restricted to testis. Mouse Slc36a2 also is expressed in bone and fat tissue. Polymorphisms in human SLC36A2 exclude it as a candidate locus for a peripheral neuropathy that has been mapped to 5q31-33. SLC36A2 is a candidate gene for 5q-myelodysplastic syndrome, on the basis of its chromosomal location and its expression in bone.

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Acknowledgements

We thank Jill O’Moore for technical support, Dr. George Carlson for his comments on the manuscript, and Drs. James Lupski and Cornelius Berkoel of Baylor University for their human sciatic nerve cDNA library. Drs. Angèle Guilbot and Eric LeGuern (Hôpital de la Salpêtrière, Paris) kindly provided DNA from their CMT patients. Photomicroscopy and image analysis at MRI was made possible by equipment purchased with a grant from the M. J. Murdock Charitable Trust. This research was supported by NIH grant NS40751 and Montana Board of Research and Commercialization Technology grant 01-10 to J.R. Bermingham, Jr.

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  1. McLaughlin Research Institute, 1520 23rd Street South, Great Falls, Montana 59405, USA

    John R. Bermingham Jr & Jamie Pennington

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  1. John R. Bermingham Jr
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Correspondence to John R. Bermingham Jr.

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Bermingham, J.R., Pennington, J. Organization and expression of the SLC36 cluster of amino acid transporter genes . Mamm Genome 15, 114–125 (2004). https://doi.org/10.1007/s00335-003-2319-3

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