Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene

Brian P. Chadwick; Sandra Gill; Maire Leyne; James Mull; Christopher B. Liebert; Christiane M. Robbins; Heather W. Pinkett; Izabela Makalowska; Channa Maayan; Anat Blumenfeld; Felicia B. Axelrod; Mike Brownstein; Susan A. Slaugenhaupt

doi:10.1016/S0378-1119(99)00432-1

Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene

Brian P. Chadwick, Sandra Gill, Maire Leyne, James Mull, Christopher B. Liebert, Christiane M. Robbins, Heather W. Pinkett, Izabela Makalowska, Channa Maayan, Anat Blumenfeld, Felicia B. Axelrod, Mike Brownstein, Susan A. Slaugenhaupt^*

^*Corresponding author for this work

Molecular Biosciences

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Abstract

A novel human transcript CG-2 (C9ORF5), was isolated from the familial dysautonomia candidate region on 9q31 using a combination of cDNA selection and exon trapping. CG-2 was detected as a relatively abundant 8 kb transcript in all adult and fetal tissues with the exception of adult thymus. Genomic analysis of CG-2 identified 18 exons that span more than 110 kb. The gene encodes a 911-amino-acid protein with a predicted molecular weight of 101 kDa and a hypothetical pI of 9.03. Sequence analysis of CG-2 indicates that it is likely to encode a transmembrane protein. Here, we assess CG-2 as a candidate for familial dysautonomia. (C) 1999 Published by Elsevier Science B.V. All rights reserved.

Original language	English (US)
Pages (from-to)	67-73
Number of pages	7
Journal	Gene
Volume	240
Issue number	1
DOIs	https://doi.org/10.1016/S0378-1119(99)00432-1
State	Published - Nov 15 1999

Funding

This work was supported by grants from the Dysautonomia Foundation and the National Institutes of Health (NS36326). Cosmid clones were identified from a flow-sorted chromosome 9-specific library constructed at the Los Alamos National Laboratory (Van Dilla and Deaven 1990). IMAGE cDNA clones and BAC clones were obtained from Research Genetics. We are grateful to Marcy MacDonald for provision of the adult frontal cortex B616 cDNA library.

Keywords

9q31
Ashkenazi Jewish
Neuropathy
Peripheral nervous system
Recessive

ASJC Scopus subject areas

Genetics

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10.1016/S0378-1119(99)00432-1

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Chadwick, B. P., Gill, S., Leyne, M., Mull, J., Liebert, C. B., Robbins, C. M., Pinkett, H. W., Makalowska, I., Maayan, C., Blumenfeld, A., Axelrod, F. B., Brownstein, M., & Slaugenhaupt, S. A. (1999). Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene. Gene, 240(1), 67-73. https://doi.org/10.1016/S0378-1119(99)00432-1

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title = "Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene",

abstract = "A novel human transcript CG-2 (C9ORF5), was isolated from the familial dysautonomia candidate region on 9q31 using a combination of cDNA selection and exon trapping. CG-2 was detected as a relatively abundant 8 kb transcript in all adult and fetal tissues with the exception of adult thymus. Genomic analysis of CG-2 identified 18 exons that span more than 110 kb. The gene encodes a 911-amino-acid protein with a predicted molecular weight of 101 kDa and a hypothetical pI of 9.03. Sequence analysis of CG-2 indicates that it is likely to encode a transmembrane protein. Here, we assess CG-2 as a candidate for familial dysautonomia. (C) 1999 Published by Elsevier Science B.V. All rights reserved.",

keywords = "9q31, Ashkenazi Jewish, Neuropathy, Peripheral nervous system, Recessive",

author = "Chadwick, {Brian P.} and Sandra Gill and Maire Leyne and James Mull and Liebert, {Christopher B.} and Robbins, {Christiane M.} and Pinkett, {Heather W.} and Izabela Makalowska and Channa Maayan and Anat Blumenfeld and Axelrod, {Felicia B.} and Mike Brownstein and Slaugenhaupt, {Susan A.}",

note = "Funding Information: This work was supported by grants from the Dysautonomia Foundation and the National Institutes of Health (NS36326). Cosmid clones were identified from a flow-sorted chromosome 9-specific library constructed at the Los Alamos National Laboratory (Van Dilla and Deaven 1990). IMAGE cDNA clones and BAC clones were obtained from Research Genetics. We are grateful to Marcy MacDonald for provision of the adult frontal cortex B616 cDNA library.",

year = "1999",

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doi = "10.1016/S0378-1119(99)00432-1",

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Chadwick, BP, Gill, S, Leyne, M, Mull, J, Liebert, CB, Robbins, CM, Pinkett, HW, Makalowska, I, Maayan, C, Blumenfeld, A, Axelrod, FB, Brownstein, M & Slaugenhaupt, SA 1999, 'Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene', Gene, vol. 240, no. 1, pp. 67-73. https://doi.org/10.1016/S0378-1119(99)00432-1

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T1 - Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene

AU - Chadwick, Brian P.

AU - Gill, Sandra

AU - Leyne, Maire

AU - Mull, James

AU - Liebert, Christopher B.

AU - Robbins, Christiane M.

AU - Pinkett, Heather W.

AU - Makalowska, Izabela

AU - Maayan, Channa

AU - Blumenfeld, Anat

AU - Axelrod, Felicia B.

AU - Brownstein, Mike

AU - Slaugenhaupt, Susan A.

N1 - Funding Information: This work was supported by grants from the Dysautonomia Foundation and the National Institutes of Health (NS36326). Cosmid clones were identified from a flow-sorted chromosome 9-specific library constructed at the Los Alamos National Laboratory (Van Dilla and Deaven 1990). IMAGE cDNA clones and BAC clones were obtained from Research Genetics. We are grateful to Marcy MacDonald for provision of the adult frontal cortex B616 cDNA library.

PY - 1999/11/15

Y1 - 1999/11/15

N2 - A novel human transcript CG-2 (C9ORF5), was isolated from the familial dysautonomia candidate region on 9q31 using a combination of cDNA selection and exon trapping. CG-2 was detected as a relatively abundant 8 kb transcript in all adult and fetal tissues with the exception of adult thymus. Genomic analysis of CG-2 identified 18 exons that span more than 110 kb. The gene encodes a 911-amino-acid protein with a predicted molecular weight of 101 kDa and a hypothetical pI of 9.03. Sequence analysis of CG-2 indicates that it is likely to encode a transmembrane protein. Here, we assess CG-2 as a candidate for familial dysautonomia. (C) 1999 Published by Elsevier Science B.V. All rights reserved.

AB - A novel human transcript CG-2 (C9ORF5), was isolated from the familial dysautonomia candidate region on 9q31 using a combination of cDNA selection and exon trapping. CG-2 was detected as a relatively abundant 8 kb transcript in all adult and fetal tissues with the exception of adult thymus. Genomic analysis of CG-2 identified 18 exons that span more than 110 kb. The gene encodes a 911-amino-acid protein with a predicted molecular weight of 101 kDa and a hypothetical pI of 9.03. Sequence analysis of CG-2 indicates that it is likely to encode a transmembrane protein. Here, we assess CG-2 as a candidate for familial dysautonomia. (C) 1999 Published by Elsevier Science B.V. All rights reserved.

KW - 9q31

KW - Ashkenazi Jewish

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KW - Peripheral nervous system

KW - Recessive

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Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene

Abstract

Funding

Keywords

ASJC Scopus subject areas

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