title: An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1).
abstract: 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 of ATQ1 is 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. Human ATQ1 was mapped to human chromosome region 5q31 using fluorescence in situ hybridization, and mouse ATQ1 was 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.
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
authors.forename: A B
authors.initials: AB
authors.lastname: Skvorak
authors.forename: N G
authors.initials: NG
authors.lastname: Robertson
authors.forename: Y
authors.initials: Y
authors.lastname: Yin
authors.forename: S
authors.initials: S
authors.lastname: Weremowicz
authors.forename: H
authors.initials: H
authors.lastname: Her
authors.forename: F R
authors.initials: FR
authors.lastname: Bieber
authors.forename: K W
authors.initials: KW
authors.lastname: Beisel
authors.forename: E D
authors.initials: ED
authors.lastname: Lynch
authors.forename: D R
authors.initials: DR
authors.lastname: Beier
authors.forename: C C
authors.initials: CC
authors.lastname: Morton
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000444:Aldehyde Dehydrogenase; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D002352:Carrier Proteins / Q000235:genetics; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D003051:Cochlea / Q000502:physiology; D017124:Conserved Sequence; D018076:DNA, Complementary; D007758:Ear, Inner / Q000502:physiology*; D005333:Fetus / Q000378:metabolism; D000080865:Formins; D015723:Gene Library; D006197:Hair / Q000502:physiology; D006801:Humans; D050647:L-Aminoadipate-Semialdehyde Dehydrogenase; D051379:Mice; D008810:Mice, Inbred C57BL; D008969:Molecular Sequence Data; D011506:Proteins / Q000235:genetics* / Q000378:metabolism*; D051381:Rats; D017421:Sequence Analysis; D014018:Tissue Distribution
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C108962:DIAPH1 protein, human; D018076:DNA, Complementary; D000080865:Formins; D011506:Proteins; C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase; C484223:Aldh7a1 protein, mouse; C484224:Aldh7a1 protein, rat; D050647:L-Aminoadipate-Semialdehyde Dehydrogenase