The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA)

R A Philibert; S L Winfield; P Damschroder-Williams; C Tengstrom; B M Martin; E I Ginns

doi:10.1007/s004390051084

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The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA)

Journal article

Peer reviewed

The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA)

R A Philibert, S L Winfield, P Damschroder-Williams, C Tengstrom, B M Martin and E I Ginns

Human genetics, Vol.105(1-2), pp.174-178

07/1999

DOI: 10.1007/s004390051084

PMID: 10480376

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Abstract

We determined the genomic organization of the human OPA-containing gene (HOPA) and characterized its developmental expression. The gene encoding HOPA, which contains a rare polymorphism tightly associated with non-specific mental retardation, is 25 kb in length and consists of 44 exons. A promoter scan analysis demonstrates two possible transcription initiation sites without TATA boxes upstream from the putative translation initiation start site. Several informative polymorphisms are evident in the sequence including a large pentanucleotide repeat. Northern blot analysis of the gene transcript and its murine orthologue, MOPA-1, demonstrates that only one transcript is expressed throughout the soma and the CNS, and that the transcript is highly expressed during early fetal development. We conclude that the delineation of the function of the HOPA gene locus merits further study.

DNA, Complementary - analysis

Cosmids

Humans

Molecular Sequence Data

Genotype

Sequence Analysis, DNA

Embryo, Mammalian - metabolism

Syndrome

Polymorphism, Genetic

Brain - metabolism

Tissue Distribution

Blotting, Northern

X Chromosome

Models, Genetic

Details

Title: Subtitle: The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA)
Creators: R A Philibert - Department of Psychiatry, University of Iowa, Iowa City 52242-1000, USA. robert-philibert@uiowa.edu
S L Winfield
P Damschroder-Williams
C Tengstrom
B M Martin
E I Ginns
Resource Type: Journal article
Publication Details: Human genetics, Vol.105(1-2), pp.174-178
DOI: 10.1007/s004390051084
PMID: 10480376
NLM abbreviation: Hum Genet
ISSN: 0340-6717
eISSN: 1432-1203
Publisher: Germany
Language: English
Date published: 07/1999
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Psychiatry; Iowa Neuroscience Institute
Record Identifier: 9984003443702771

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