Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans.docVIP

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Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans.doc

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Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans

BMC Genomics BioMedCentral BMC R 20 e 0 s 2 e Genomics, arch article 3 Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans John L Falardeau?1,3, John C Kennedy?1,3, James S Acierno Jr1,3, Mei Sun2, Stefanie Stahl2, Ehud Goldin2 and Susan A Slaugenhaupt*1,3 Address: 1Harvard Institute of Human Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA, 2Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA and 3Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA, USA E-mail: John L Falardeau - falardea@; John C Kennedy - jkennedyhelix@; James S Acierno - acierno@; Mei Sun - msun@; Stefanie Stahl - stahl@; Ehud Goldin - goldin@; Susan A Slaugenhaupt* - slaugenh@ *Corresponding author ?Equal contributors Published: 5 February 2002 Received: 27 November 2001 Accepted: 5 February 2002 BMC Genomics 2002, 3:3 This article is available from: /1471-2164/3/3 ? 2002 Falardeau et al; licensee BioMed Central Ltd. Verbatim copying and redistribution of this article are permitted in any medium for any purpose, provided this notice is preserved along with the articles original URL. Abstract Background: Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder characterized by severe neurologic and ophthalmologic abnormalities. Recently the MLIV gene, MCOLN1, has been identified as a new member of the transient receptor potential (TRP) cation channel superfamily. Here we report the cloning and characterization of the mouse homologue, Mcoln1, and report a novel splice variant that is not seen in humans. Results: The human and mouse genes display a high degree of synteny. Mcoln1 shows 91% amino acid and 86% nucleotide identity to MCOLN1. Also, Mcoln1 maps to chromosome 8 and contains an open reading fra