Localization of the fanconi anemia complementation group D gene to a 200-kb region on chromosome 3p25.3

James A. Hejna, Cynthia D. Timmers, Carol Reifsteck, Donald A. Bruun, Lora W. Lucas, Petra M. Jakobs, SuEllen Toth-Fejel, Nancy Unsworth, Susan L. Clemens, Dawn K. Garcia, Susan L. Naylor, Mathew (Matt) Thayer, Susan Olson, Markus Grompe, Robb Moses

Research output: Contribution to journalArticle

27 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)1540-1551
Number of pages12
JournalAmerican Journal of Human Genetics
Volume66
Issue number5
DOIs
StatePublished - 2000

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Fanconi Anemia
Chromosomes
Genes
Bone Marrow Diseases
Oxytocin Receptors
Bacterial Artificial Chromosomes
Chromosome Breakage
Hybrid Cells
Tumor Suppressor Genes
Cell Line
DNA
Incidence
Neoplasms

ASJC Scopus subject areas

  • Genetics

Cite this

Localization of the fanconi anemia complementation group D gene to a 200-kb region on chromosome 3p25.3. / 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 (Matt); Olson, Susan; Grompe, Markus; Moses, Robb.

In: American Journal of Human Genetics, Vol. 66, No. 5, 2000, p. 1540-1551.

Research output: Contribution to journalArticle

Hejna, JA, Timmers, CD, Reifsteck, C, Bruun, DA, Lucas, LW, Jakobs, PM, Toth-Fejel, S, Unsworth, N, Clemens, SL, Garcia, DK, Naylor, SL, Thayer, MM, Olson, S, Grompe, M & Moses, R 2000, 'Localization of the fanconi anemia complementation group D gene to a 200-kb region on chromosome 3p25.3', American Journal of Human Genetics, vol. 66, no. 5, pp. 1540-1551. https://doi.org/10.1086/302896
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 (Matt) ; Olson, Susan ; Grompe, Markus ; Moses, Robb. / Localization of the fanconi anemia complementation group D gene to a 200-kb region on chromosome 3p25.3. In: American Journal of Human Genetics. 2000 ; Vol. 66, No. 5. pp. 1540-1551.
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AU - Bruun, Donald A.

AU - Lucas, Lora W.

AU - Jakobs, Petra M.

AU - Toth-Fejel, SuEllen

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AU - Clemens, Susan L.

AU - Garcia, Dawn K.

AU - Naylor, Susan L.

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AU - Olson, Susan

AU - Grompe, Markus

AU - Moses, Robb

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