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Identification of a PIG-A related processed gene on chromosome 12

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Abstract

PIG-A, the gene encoding the glycoinositol phospholipid anchor synthetic element that is defective in paroxysmal nocturnal hemoglobinuria (PNH), resides on the X chromosome. In the course of analyses of PIG-A genetic alterations in PNH patients, polymerase chain reaction (PCR) amplification of reverse-transcribed RNA from affected leukocytes of a patient with diminished PIG-A mRNA expression yielded a PIG-A related sequence with 126 nucleotide substitutions and five deletions. In the present study, the origin of this product was investigated. Selective reverse transcription (RT)/PCR amplifications with primers specific for PIG-A and this variant sequence, analyses of RNA from unaffected cells, and differential endonuclease digestions showed that mRNA with this sequence is coexpressed with PIG-A mRNA in a wide range of cell types. Mapping of genomic DNA from human/rodent hybrids showed that the sequence derives from a processed gene, designated PIG-A-II, that is encoded on chromosome 12.

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Authors and Affiliations

  1. Institute of Pathology, Case Western Reserve University, 2085 Adelbert Road, 44106, Cleveland, OH, USA

    Shanmugam Nagarajan & M. Edward Medof

  2. Department of Genetics, Case Western Reserve University, 44106, Cleveland, OH, USA

    Carolyn J. Brown

Authors
  1. Shanmugam Nagarajan
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  2. Carolyn J. Brown
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  3. M. Edward Medof
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Nagarajan, S., Brown, C.J. & Medof, M.E. Identification of a PIG-A related processed gene on chromosome 12. Hum Genet 95, 691–697 (1995). https://doi.org/10.1007/BF00209489

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  • DOI: https://doi.org/10.1007/BF00209489

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