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Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans
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....
Autores principales: | , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2002
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC88885/ https://www.ncbi.nlm.nih.gov/pubmed/11897010 http://dx.doi.org/10.1186/1471-2164-3-3 |
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author | Falardeau, John L Kennedy, John C Acierno, James S Sun, Mei Stahl, Stefanie Goldin, Ehud Slaugenhaupt, Susan A |
author_facet | Falardeau, John L Kennedy, John C Acierno, James S Sun, Mei Stahl, Stefanie Goldin, Ehud Slaugenhaupt, Susan A |
author_sort | Falardeau, John L |
collection | PubMed |
description | 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 frame of 580 amino acids, with a transcript length of approximately 2 kb encoded by 14 exons, similar to its human counterpart. The transcript that results from murine specific alternative splicing encodes a 611 amino acid protein that differs at the c-terminus. CONCLUSIONS: Mcoln1 is highly similar to MCOLN1, especially in the transmembrane domains and ion pore region. Also, the late endosomal/lysosomal targeting signal is conserved, supporting the hypothesis that the protein is localized to these vesicle membranes. To date, there are very few reports describing species-specific splice variants. While identification of Mcoln1 is crucial to the development of mouse models for MLIV, the fact that there are two transcripts in mice suggests an additional or alternate function of the gene that may complicate phenotypic assessment. |
format | Text |
id | pubmed-88885 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2002 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-888852002-03-19 Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans Falardeau, John L Kennedy, John C Acierno, James S Sun, Mei Stahl, Stefanie Goldin, Ehud Slaugenhaupt, Susan A BMC Genomics Research Article 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 frame of 580 amino acids, with a transcript length of approximately 2 kb encoded by 14 exons, similar to its human counterpart. The transcript that results from murine specific alternative splicing encodes a 611 amino acid protein that differs at the c-terminus. CONCLUSIONS: Mcoln1 is highly similar to MCOLN1, especially in the transmembrane domains and ion pore region. Also, the late endosomal/lysosomal targeting signal is conserved, supporting the hypothesis that the protein is localized to these vesicle membranes. To date, there are very few reports describing species-specific splice variants. While identification of Mcoln1 is crucial to the development of mouse models for MLIV, the fact that there are two transcripts in mice suggests an additional or alternate function of the gene that may complicate phenotypic assessment. BioMed Central 2002-02-05 /pmc/articles/PMC88885/ /pubmed/11897010 http://dx.doi.org/10.1186/1471-2164-3-3 Text en Copyright © 2002 Falardeau et al; licensee BioMed Central Ltd. This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL. |
spellingShingle | Research Article Falardeau, John L Kennedy, John C Acierno, James S Sun, Mei Stahl, Stefanie Goldin, Ehud Slaugenhaupt, Susan A Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans |
title | Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans |
title_full | Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans |
title_fullStr | Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans |
title_full_unstemmed | Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans |
title_short | Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans |
title_sort | cloning and characterization of the mouse mcoln1 gene reveals an alternatively spliced transcript not seen in humans |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC88885/ https://www.ncbi.nlm.nih.gov/pubmed/11897010 http://dx.doi.org/10.1186/1471-2164-3-3 |
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