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Somatic Cell and Molecular Genetics

, Volume 22, Issue 6, pp 511–517 | Cite as

Transcribed sequences encoded in the region involved in contiguous deletion syndrome that comprises X-linked stapes fixation and deafness

  • Geeta Kandpal
  • A. N. K. Jacob
  • Rajendra P. Kandpal
Brief Communication

Abstract

We have used a direct cDNA selection protocol to isolate expressed sequences from yeast artificial chromosome clones that contain approximately 900 Kb of genomic DNA from Xq21 band that is deleted in contiguous gene syndromes comprising of mixed deafness associated with stapes fixation (DFN3). In addition to identifying Brn4 (POU3f4), a POU domain containing transcription factor that is involved in DFN3 phenotype, we have isolated seven short fragment cDNAs mapping to the deleted region. Some of the selected fragments showed X-chromosome specificity and hybridized to autosomal DNA fragments, indicating the presence of a low abundance interspersed repeat in the cDNAs or their homology to some uncharacterized family of genes. In conformity with the inertness of Xq21 band our results demonstrate that the region encodes far less than the average density of genes in other parts of the genome.

Keywords

Fragment cDNAs Artificial Chromosome Short Fragment Yeast Artificial Chromosome Deletion Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Plenum Publishing Corporation 1996

Authors and Affiliations

  • Geeta Kandpal
    • 1
  • A. N. K. Jacob
    • 1
  • Rajendra P. Kandpal
    • 1
  1. 1.Fels Institute for Cancer Research and Molecular BiologyTemple University School of MedicinePhiladelphia

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