Expressed genes, Alu repeats and polymorphisms in cosmids sequenced from chromosome 4p16.3

McCombie, W. R., Martin-Gallardo, A., Gocayne, J. D., FitzGerald, M., Dubnick, M., Kelley, J. M., Castilla, L., Liu, L. I., Wallace, S., Trapp, S., Tagle, D., Whaley, W. L., Cheng, S., Gusella, J., Frischauf, A. M., Poustka, A., Lehrach, H., Collins, F. S., Kerlavage, A. R., Fields, C., Venter, J. C. (1992) Expressed genes, Alu repeats and polymorphisms in cosmids sequenced from chromosome 4p16.3. Nature Genetics, 1 (5). pp. 348-353. ISSN 10614036 (ISSN)

URL: http://www.ncbi.nlm.nih.gov/pubmed/1338771
DOI: 10.1038/ng0892-348

Abstract

The sequences of three cosmids (90 kilobases) from the Huntington's disease region in chromosome 4p16.3 have been determined. A 30,837 base overlap of DNA sequenced from two individuals was found to contain 72 DNA sequence polymorphisms, an average of 2.3 polymorphisms per kilobase (kb). The assembled 58 kb contig contains 62 Alu repeats, and eleven predicted exons representing at least three expressed genes that encode previously unidentified proteins. Each of these genes is associated with a CpG island. The structure of one of the new genes, hda1-1, has been determined by characterizing cDNAs from a placental library. This gene is expressed in a variety of tissues and may encode a novel housekeeping gene.

Item Type: Paper
Uncontrolled Keywords: DNA hda1 1 protein hda1-1 protein protein amino acid sequence article chromosome 4 chromosome banding pattern chromosome map codon cosmid female gene expression gene library genetic polymorphism genetics human Huntington chorea hybrid cell molecular cloning molecular genetics nucleotide repeat nucleotide sequence physiology placenta point mutation pregnancy transposon Base Sequence Chromosome Banding Chromosome Mapping Chromosomes, Human, Pair 4 Cloning, Molecular Cosmids DNA Transposable Elements Huntington Disease Hybrid Cells Molecular Sequence Data Polymorphism (Genetics) Proteins Repetitive Sequences, Nucleic Acid Support, Non-U.S. Gov't Support, U.S. Gov't, P.H.S.
Subjects: diseases & disorders > congenital hereditary genetic diseases
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification
diseases & disorders
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
bioinformatics > genomics and proteomics
diseases & disorders > mental disorders > genetic disorders
diseases & disorders > cancer > cancer types > huntington's disease
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > single nucleotide polymorphism
CSHL Authors:
Communities: CSHL labs > McCombie lab
Depositing User: Matt Covey
Date Deposited: 25 Apr 2013 20:03
Last Modified: 25 Apr 2013 20:03
Related URLs:
URI: http://repository.cshl.edu/id/eprint/28209

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