An Ancient Conserved Gene Expressed in the Human Inner Ear: Identification, Expression Analysis, and Chromosomal Mapping of Human and Mouse Antiquitin (ATQ1)

We constructed and screened a human fetal cochlear cDNA library to identify genes involved in hearing and deafness. From this library we isolated a cDNA corresponding to the highly conserved ancient gene antiquitin (ATQ1). The plant homolog ofATQ1is thought to be involved in regulating turgor pressu...

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Bibliographic Details
Published in:Genomics (San Diego, Calif.) Calif.), 1997-12, Vol.46 (2), p.191-199
Main Authors: Skvorak, Anne B., Robertson, Nahid G., Yin, Yi, Weremowicz, Stanislawa, Her, Helen, Bieber, Frederick R., Beisel, Kirk W., Lynch, Eric.D., Beier, David R., Morton, Cynthia C.
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing
Aldehyde Dehydrogenase
Animals
Base Sequence
Biological and medical sciences
Blotting, Northern
Carrier Proteins - genetics
Chromosome Mapping
Chromosomes, Human, Pair 5
Cochlea - physiology
Conserved Sequence
DNA, Complementary
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Ear, Inner - physiology
Fetus - metabolism
Gene Library
Hair - physiology
Humans
L-Aminoadipate-Semialdehyde Dehydrogenase
Medical sciences
Mice
Mice, Inbred C57BL
Molecular Sequence Data
Non tumoral diseases
Otorhinolaryngology. Stomatology
Proteins - genetics
Proteins - metabolism
Rats
Sequence Analysis
Tissue Distribution
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Summary:We constructed and screened a human fetal cochlear cDNA library to identify genes involved in hearing and deafness. From this library we isolated a cDNA corresponding to the highly conserved ancient gene antiquitin (ATQ1). The plant homolog ofATQ1is thought to be involved in regulating turgor pressure, a function that also would be essential for cells of the mammalian cochlea. Northern blots of 13 human fetal tissues show antiquitin to be highly expressed in cochlea, ovary, eye, heart, and kidney. Using RT-PCR of rat cochlear hair cell-specific cDNA libraries, we detect antiquitin expression in outer hair cells, but not in inner or vestibular type 1 hair cells, suggesting that antiquitin is not expressed ubiquitously in the cochlea. HumanATQ1was mapped to human chromosome region 5q31 using fluorescencein situhybridization, and mouseATQ1was mapped to mouse chromosome 18 by single-strand conformation polymorphism mapping of interspecific backcross progeny DNAs. Four human antiquitin-like sequences, possibly pseudogenes, were also identified and mapped.
ISSN:0888-7543
1089-8646
DOI:10.1006/geno.1997.5026