Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p

M. Whitney, Mathew (Matt) Thayer, C. Reifsteck, Susan Olson, L. Smith, P. M. Jakobs, R. Leach, S. Naylor, H. Joenje, Markus Grompe

Research output: Contribution to journalArticle

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Abstract

Fanconi anaemia (FA) is an autosomal recessive disorder characterized by progressive pancytopenia, short stature, radial ray defects, skin hyperpigmentation and a predisposition to cancer. Cells from FA patients are hypersensitive to cell killing and chromosome breakage induced by DNA cross- linking agents such as mitomycin C (MMC) and diepoxybutane (DEB). Consequently, the defect in FA is thought to be in DNA crosslink repair. Additional cellular phenotypes of FA include oxygen sensitivity, poor cell growth and a G2 cell cycle delay. At least 5 complementation groups for Fanconi anaemia exist, termed A through E. One of the five FA genes, FA(C), has been identified by cDNA complementation, but no other FA genes have been mapped or cloned until now. The strategy of cDNA complementation, which was successful for identifying the FA(C) gene has not yet been successful for cloning additional FA genes. The alternative approach of linkage analysis, followed by positional cloning, is hindered in FA by genetic heterogeneity and the lack of a simple assay for determining complementation groups. In contrast to genetic linkage studies, microcell mediated chromosome transfer utilizes functional complementation to identify the disease bearing chromosome. Here we report the successful use of this technique to map the gene for the rare FA complementation group D (FA(D)).

Original languageEnglish (US)
Pages (from-to)341-343
Number of pages3
JournalNature Genetics
Volume11
Issue number3
StatePublished - 1995

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Fanconi Anemia
Chromosomes
Genes
Organism Cloning
Complementary DNA
Chromosome Breakage
Hyperpigmentation
Pancytopenia
Genetic Linkage
Genetic Heterogeneity
Mitomycin
DNA Repair

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p. / Whitney, M.; Thayer, Mathew (Matt); Reifsteck, C.; Olson, Susan; Smith, L.; Jakobs, P. M.; Leach, R.; Naylor, S.; Joenje, H.; Grompe, Markus.

In: Nature Genetics, Vol. 11, No. 3, 1995, p. 341-343.

Research output: Contribution to journalArticle

Whitney, M, Thayer, MM, Reifsteck, C, Olson, S, Smith, L, Jakobs, PM, Leach, R, Naylor, S, Joenje, H & Grompe, M 1995, 'Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p', Nature Genetics, vol. 11, no. 3, pp. 341-343.
Whitney, M. ; Thayer, Mathew (Matt) ; Reifsteck, C. ; Olson, Susan ; Smith, L. ; Jakobs, P. M. ; Leach, R. ; Naylor, S. ; Joenje, H. ; Grompe, Markus. / Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p. In: Nature Genetics. 1995 ; Vol. 11, No. 3. pp. 341-343.
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