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Localization of the Fanconi Anemia Complementation Group D Gene to a 200-kb Region on Chromosome 3p25.3

Authors
  • Hejna, James A.
  • Timmers, Cynthia D.
  • Reifsteck, Carol
  • Bruun, Donald A.
  • Lucas, Lora W.
  • Jakobs, Petra M.
  • Toth-Fejel, SuEllen
  • Unsworth, Nancy
  • Clemens, Susan L.
  • Garcia, Dawn K.
  • Naylor, Susan L.
  • Thayer, Mathew J.
  • Olson, Susan B.
  • Grompe, Markus
  • Moses, Robb E.
Type
Published Article
Journal
The American Journal of Human Genetics
Publication Date
Jan 01, 2000
Accepted Date
Feb 08, 2000
Volume
66
Issue
5
Pages
1540–1551
Identifiers
DOI: 10.1086/302896
Source
Elsevier
Keywords
License
Unknown

Abstract

Fanconi anemia (FA) is a rare autosomal recessive disease manifested by bone-marrow failure and an elevated incidence of cancer. Cells taken from patients exhibit spontaneous chromosomal breaks and rearrangements. These breaks and rearrangements are greatly elevated by treatment of FA cells with the use of DNA cross-linking agents. The FA complementation group D gene ( FANCD) has previously been localized to chromosome 3p22-26, by use of microcell-mediated chromosome transfer. Here we describe the use of noncomplemented microcell hybrids to identify small overlapping deletions that narrow the FANCD critical region. A 1.2-Mb bacterial-artificial-chromosome (BAC)/P1 contig was constructed, bounded by the marker D3S3691 distally and by the gene ATP2B2 proximally. The contig contains at least 36 genes, including the oxytocin receptor ( OXTR), hOGG1, the von Hippel-Lindau tumor-suppressor gene ( VHL), and IRAK-2. Both hOGG1 and IRAK-2 were excluded as candidates for FANCD. BACs were then used as probes for FISH analyses, to map the extent of the deletions in four of the noncomplemented microcell hybrid cell lines. A narrow region of common overlapping deletions limits the FANCD critical region to ∼200 kb. The three candidate genes in this region are TIGR-A004X28, SGC34603, and AA609512.

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