The E subunit of vacuolar H(+)-ATPase localizes close to the centromere on human chromosome 22.
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Baud V, Mears AJ, Lamour V, Scamps C, Duncan AM, McDermid HE, Lipinski M
The E subunit of vacuolar H(+)-ATPase localizes close to the centromere on human chromosome 22.
Hum Mol Genet. 1994 Feb;3(2):335-9. doi: 10.1093/hmg/3.2.335.
- PubMed ID
- 8004105 [ View in PubMed]
- Abstract
As part of a general effort to identify new genes mapping to disease-associated regions of human chromosome 22, we have isolated heterogeneous nuclear RNA from somatic cell hybrids selected for their chromosome 22 content. Inter-Alu PCR amplification yielded a series of human DNA fragments which all detected evolutionarily-conserved sequences. The centromere-most gene fragment candidate, XEN61, was shown to lie centromeric to the chromosome 22 breakpoint in the X/22-33-11TG somatic cell hybrid. This region, which is still devoid of characterized genes, overlaps with the critical region for the cat eye syndrome (CES), a developmental disorder associated with chromosomal duplication within 22pter-q11.2. Gene dosage analysis performed on DNA from six CES patients consistently revealed the presence of four copies of XEN61. A fetal brain cDNA clone, 61EW, was identified with XEN61 and entirely sequenced. The deduced protein is the E subunit of vacuolar H(+)-ATPase. This 31 KDa component of a proton pump is essential in eukaryotic cells as it both controls acidification of the vacuolar system and provides it with its main protonmotive force. RT-PCR experiments using oligonucleotides designed from the 61EW cDNA sequence indicated that the corresponding messenger is widely transcribed.