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Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3‐p24.2
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| Zeitschriftentitel: | American Journal of Medical Genetics Part B: Neuropsychiatric Genetics |
|---|---|
| Personen und Körperschaften: | , , , |
| In: | American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 127B, 2004, 1, S. 128-130 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
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| Schlagwörter: |
| author_facet |
Higgins, Joseph. J. Lombardi, Roni Q. Pucilowska, Joanna Ruszczyk, Melanie U. Higgins, Joseph. J. Lombardi, Roni Q. Pucilowska, Joanna Ruszczyk, Melanie U. |
|---|---|
| author |
Higgins, Joseph. J. Lombardi, Roni Q. Pucilowska, Joanna Ruszczyk, Melanie U. |
| spellingShingle |
Higgins, Joseph. J. Lombardi, Roni Q. Pucilowska, Joanna Ruszczyk, Melanie U. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3‐p24.2 Cellular and Molecular Neuroscience Psychiatry and Mental health Genetics (clinical) |
| author_sort |
higgins, joseph. j. |
| spelling |
Higgins, Joseph. J. Lombardi, Roni Q. Pucilowska, Joanna Ruszczyk, Melanie U. 1552-4841 1552-485X Wiley Cellular and Molecular Neuroscience Psychiatry and Mental health Genetics (clinical) http://dx.doi.org/10.1002/ajmg.b.20152 <jats:title>Abstract</jats:title><jats:p>A gene for autosomal dominant familial essential tremor maps to a 9.1 cM interval flanked by loci D2S224 and D2S405 (ETM2) on human chromosome 2p24.3‐p24.2. The recombinatorial boundaries of the interval were refined on a radiation hybrid map to a 123 cR minimal critical region (MCR) between D2S224 and D2S2221. High‐throughput non‐isotopic screening of bacterial artificial chromosomes (BACs) was used to assemble a physical map of the region. A scaffold BAC map of 31 overlapping clones was ordered by their sequence tagged site (STS) content using PCR and Southern blotting. A complementary 3.9 Mb integrated physical map of the human ETM2 region was constructed by identifying GenBank contigs that contained seven BAC DNA sequences and common STSs. Thirty‐three transcripts including five known genes (<jats:italic>MATN3</jats:italic>, <jats:italic>LAPTM4A</jats:italic>, <jats:italic>SDC1</jats:italic>, <jats:italic>PUM2</jats:italic>, and <jats:italic>APOB</jats:italic>) were identified in the MCR and ordered on an integrated contig by PCR and virtual mapping. This physical map will provide a template for genomic sequencing and the identification of a gene for essential tremor. © 2003 Wiley‐Liss, Inc.</jats:p> Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3‐p24.2 American Journal of Medical Genetics Part B: Neuropsychiatric Genetics |
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10.1002/ajmg.b.20152 |
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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics |
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| title |
Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3‐p24.2 |
| title_unstemmed |
Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3‐p24.2 |
| title_full |
Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3‐p24.2 |
| title_fullStr |
Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3‐p24.2 |
| title_full_unstemmed |
Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3‐p24.2 |
| title_short |
Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3‐p24.2 |
| title_sort |
integrated physical map of the human essential tremor gene region (etm2) on chromosome 2p24.3‐p24.2 |
| topic |
Cellular and Molecular Neuroscience Psychiatry and Mental health Genetics (clinical) |
| url |
http://dx.doi.org/10.1002/ajmg.b.20152 |
| publishDate |
2004 |
| physical |
128-130 |
| description |
<jats:title>Abstract</jats:title><jats:p>A gene for autosomal dominant familial essential tremor maps to a 9.1 cM interval flanked by loci D2S224 and D2S405 (ETM2) on human chromosome 2p24.3‐p24.2. The recombinatorial boundaries of the interval were refined on a radiation hybrid map to a 123 cR minimal critical region (MCR) between D2S224 and D2S2221. High‐throughput non‐isotopic screening of bacterial artificial chromosomes (BACs) was used to assemble a physical map of the region. A scaffold BAC map of 31 overlapping clones was ordered by their sequence tagged site (STS) content using PCR and Southern blotting. A complementary 3.9 Mb integrated physical map of the human ETM2 region was constructed by identifying GenBank contigs that contained seven BAC DNA sequences and common STSs. Thirty‐three transcripts including five known genes (<jats:italic>MATN3</jats:italic>, <jats:italic>LAPTM4A</jats:italic>, <jats:italic>SDC1</jats:italic>, <jats:italic>PUM2</jats:italic>, and <jats:italic>APOB</jats:italic>) were identified in the MCR and ordered on an integrated contig by PCR and virtual mapping. This physical map will provide a template for genomic sequencing and the identification of a gene for essential tremor. © 2003 Wiley‐Liss, Inc.</jats:p> |
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| author | Higgins, Joseph. J., Lombardi, Roni Q., Pucilowska, Joanna, Ruszczyk, Melanie U. |
| author_facet | Higgins, Joseph. J., Lombardi, Roni Q., Pucilowska, Joanna, Ruszczyk, Melanie U., Higgins, Joseph. J., Lombardi, Roni Q., Pucilowska, Joanna, Ruszczyk, Melanie U. |
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| container_title | American Journal of Medical Genetics Part B: Neuropsychiatric Genetics |
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| description | <jats:title>Abstract</jats:title><jats:p>A gene for autosomal dominant familial essential tremor maps to a 9.1 cM interval flanked by loci D2S224 and D2S405 (ETM2) on human chromosome 2p24.3‐p24.2. The recombinatorial boundaries of the interval were refined on a radiation hybrid map to a 123 cR minimal critical region (MCR) between D2S224 and D2S2221. High‐throughput non‐isotopic screening of bacterial artificial chromosomes (BACs) was used to assemble a physical map of the region. A scaffold BAC map of 31 overlapping clones was ordered by their sequence tagged site (STS) content using PCR and Southern blotting. A complementary 3.9 Mb integrated physical map of the human ETM2 region was constructed by identifying GenBank contigs that contained seven BAC DNA sequences and common STSs. Thirty‐three transcripts including five known genes (<jats:italic>MATN3</jats:italic>, <jats:italic>LAPTM4A</jats:italic>, <jats:italic>SDC1</jats:italic>, <jats:italic>PUM2</jats:italic>, and <jats:italic>APOB</jats:italic>) were identified in the MCR and ordered on an integrated contig by PCR and virtual mapping. This physical map will provide a template for genomic sequencing and the identification of a gene for essential tremor. © 2003 Wiley‐Liss, Inc.</jats:p> |
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| spelling | Higgins, Joseph. J. Lombardi, Roni Q. Pucilowska, Joanna Ruszczyk, Melanie U. 1552-4841 1552-485X Wiley Cellular and Molecular Neuroscience Psychiatry and Mental health Genetics (clinical) http://dx.doi.org/10.1002/ajmg.b.20152 <jats:title>Abstract</jats:title><jats:p>A gene for autosomal dominant familial essential tremor maps to a 9.1 cM interval flanked by loci D2S224 and D2S405 (ETM2) on human chromosome 2p24.3‐p24.2. The recombinatorial boundaries of the interval were refined on a radiation hybrid map to a 123 cR minimal critical region (MCR) between D2S224 and D2S2221. High‐throughput non‐isotopic screening of bacterial artificial chromosomes (BACs) was used to assemble a physical map of the region. A scaffold BAC map of 31 overlapping clones was ordered by their sequence tagged site (STS) content using PCR and Southern blotting. A complementary 3.9 Mb integrated physical map of the human ETM2 region was constructed by identifying GenBank contigs that contained seven BAC DNA sequences and common STSs. Thirty‐three transcripts including five known genes (<jats:italic>MATN3</jats:italic>, <jats:italic>LAPTM4A</jats:italic>, <jats:italic>SDC1</jats:italic>, <jats:italic>PUM2</jats:italic>, and <jats:italic>APOB</jats:italic>) were identified in the MCR and ordered on an integrated contig by PCR and virtual mapping. This physical map will provide a template for genomic sequencing and the identification of a gene for essential tremor. © 2003 Wiley‐Liss, Inc.</jats:p> Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3‐p24.2 American Journal of Medical Genetics Part B: Neuropsychiatric Genetics |
| spellingShingle | Higgins, Joseph. J., Lombardi, Roni Q., Pucilowska, Joanna, Ruszczyk, Melanie U., American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3‐p24.2, Cellular and Molecular Neuroscience, Psychiatry and Mental health, Genetics (clinical) |
| title | Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3‐p24.2 |
| title_full | Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3‐p24.2 |
| title_fullStr | Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3‐p24.2 |
| title_full_unstemmed | Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3‐p24.2 |
| title_short | Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3‐p24.2 |
| title_sort | integrated physical map of the human essential tremor gene region (etm2) on chromosome 2p24.3‐p24.2 |
| title_unstemmed | Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3‐p24.2 |
| topic | Cellular and Molecular Neuroscience, Psychiatry and Mental health, Genetics (clinical) |
| url | http://dx.doi.org/10.1002/ajmg.b.20152 |