Positional cloning of the fanconi anaemia group A gene

Sinoula Apostolou, Scott A. Whitmore, Joanna Crawford, Gregory Lennon, Grant R. Sutherland, David F. Callen, Leonarda Ianzano, Maria Savino, Maria D'apolito, Angelo Notarangelo, Elena Memeo, Maria Rosaria Piemontese, Leopoldo Zelante, Anna Savoia, Rachel A. Gibson, Alex J. Tipping, Neil V. Morgan, Sheila Hassock, Stander Jansen, Thorny J. de RavelCarola Van Berkel, Jan C. Pronk, Douglas F. Easton, Christopher G. Mathew, Orna Levran, Peter C. Verlander, Sat Dev Batish, Tamar Erlich, Arleen D. Auerbach, Anne Marie Cleton-Fansen, Elna W. Moerland, Cees J. Cornelisse, Norman A. Doggett, Larry L. Deaven, Robert K. Moyzis, The Fanconi anaemia/Breast cancer consortium

Research output: Contribution to journalLetter

252 Citations (Scopus)

Abstract

Fanconi anaemia (FA) is an autosomal recessive disorder associated with progressive bone-marrow failure, a variety of congenital abnormalities, and predisposition to acute myeloid leukaemia1. Cells from FA patients show increased sensitivity to bifunctional DNA crosslinking agents such as diepoxybutane and mitomycin C, with charac-teristic chromosome breakage2. FA is genetically heterogeneous, at least five different complementation groups (FA-A to FA-E) having been described3,4. The gene for group C (FAC) was cloned by functional complementation and mapped to chromosome 9q22.3 (refs 3,5), but the genes for the other complementation groups have not yet been identified. The group A gene [FAA) has recently been mapped to chromosome 16q24.3 by linkage analysis6, and accounts for 60-65% of FA cases7,8. We narrowed the candidate region by linkage and allelic association analysis, and have isolated a gene that is mutated in FA-A patients. The gene encodes a protein of 1,455 amino acids that has no significant homology to any other known proteins, and may therefore represent a new class of genes associated with the prevention or repair of DNA damage.

Original languageEnglish
Pages (from-to)324-328
Number of pages5
JournalNature Genetics
Volume14
Issue number3
DOIs
Publication statusPublished - 1996

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Fanconi Anemia
Organism Cloning
Genes
Chromosomes
Mitomycin
DNA Damage
Proteins
Bone Marrow
Amino Acids
DNA

ASJC Scopus subject areas

  • Genetics

Cite this

Apostolou, S., Whitmore, S. A., Crawford, J., Lennon, G., Sutherland, G. R., Callen, D. F., ... The Fanconi anaemia/Breast cancer consortium (1996). Positional cloning of the fanconi anaemia group A gene. Nature Genetics, 14(3), 324-328. https://doi.org/10.1038/ng1196-324

Positional cloning of the fanconi anaemia group A gene. / Apostolou, Sinoula; Whitmore, Scott A.; Crawford, Joanna; Lennon, Gregory; Sutherland, Grant R.; Callen, David F.; Ianzano, Leonarda; Savino, Maria; D'apolito, Maria; Notarangelo, Angelo; Memeo, Elena; Piemontese, Maria Rosaria; Zelante, Leopoldo; Savoia, Anna; Gibson, Rachel A.; Tipping, Alex J.; Morgan, Neil V.; Hassock, Sheila; Jansen, Stander; de Ravel, Thorny J.; Van Berkel, Carola; Pronk, Jan C.; Easton, Douglas F.; Mathew, Christopher G.; Levran, Orna; Verlander, Peter C.; Batish, Sat Dev; Erlich, Tamar; Auerbach, Arleen D.; Cleton-Fansen, Anne Marie; Moerland, Elna W.; Cornelisse, Cees J.; Doggett, Norman A.; Deaven, Larry L.; Moyzis, Robert K.; The Fanconi anaemia/Breast cancer consortium.

In: Nature Genetics, Vol. 14, No. 3, 1996, p. 324-328.

Research output: Contribution to journalLetter

Apostolou, S, Whitmore, SA, Crawford, J, Lennon, G, Sutherland, GR, Callen, DF, Ianzano, L, Savino, M, D'apolito, M, Notarangelo, A, Memeo, E, Piemontese, MR, Zelante, L, Savoia, A, Gibson, RA, Tipping, AJ, Morgan, NV, Hassock, S, Jansen, S, de Ravel, TJ, Van Berkel, C, Pronk, JC, Easton, DF, Mathew, CG, Levran, O, Verlander, PC, Batish, SD, Erlich, T, Auerbach, AD, Cleton-Fansen, AM, Moerland, EW, Cornelisse, CJ, Doggett, NA, Deaven, LL, Moyzis, RK & The Fanconi anaemia/Breast cancer consortium 1996, 'Positional cloning of the fanconi anaemia group A gene', Nature Genetics, vol. 14, no. 3, pp. 324-328. https://doi.org/10.1038/ng1196-324
Apostolou S, Whitmore SA, Crawford J, Lennon G, Sutherland GR, Callen DF et al. Positional cloning of the fanconi anaemia group A gene. Nature Genetics. 1996;14(3):324-328. https://doi.org/10.1038/ng1196-324
Apostolou, Sinoula ; Whitmore, Scott A. ; Crawford, Joanna ; Lennon, Gregory ; Sutherland, Grant R. ; Callen, David F. ; Ianzano, Leonarda ; Savino, Maria ; D'apolito, Maria ; Notarangelo, Angelo ; Memeo, Elena ; Piemontese, Maria Rosaria ; Zelante, Leopoldo ; Savoia, Anna ; Gibson, Rachel A. ; Tipping, Alex J. ; Morgan, Neil V. ; Hassock, Sheila ; Jansen, Stander ; de Ravel, Thorny J. ; Van Berkel, Carola ; Pronk, Jan C. ; Easton, Douglas F. ; Mathew, Christopher G. ; Levran, Orna ; Verlander, Peter C. ; Batish, Sat Dev ; Erlich, Tamar ; Auerbach, Arleen D. ; Cleton-Fansen, Anne Marie ; Moerland, Elna W. ; Cornelisse, Cees J. ; Doggett, Norman A. ; Deaven, Larry L. ; Moyzis, Robert K. ; The Fanconi anaemia/Breast cancer consortium. / Positional cloning of the fanconi anaemia group A gene. In: Nature Genetics. 1996 ; Vol. 14, No. 3. pp. 324-328.
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abstract = "Fanconi anaemia (FA) is an autosomal recessive disorder associated with progressive bone-marrow failure, a variety of congenital abnormalities, and predisposition to acute myeloid leukaemia1. Cells from FA patients show increased sensitivity to bifunctional DNA crosslinking agents such as diepoxybutane and mitomycin C, with charac-teristic chromosome breakage2. FA is genetically heterogeneous, at least five different complementation groups (FA-A to FA-E) having been described3,4. The gene for group C (FAC) was cloned by functional complementation and mapped to chromosome 9q22.3 (refs 3,5), but the genes for the other complementation groups have not yet been identified. The group A gene [FAA) has recently been mapped to chromosome 16q24.3 by linkage analysis6, and accounts for 60-65{\%} of FA cases7,8. We narrowed the candidate region by linkage and allelic association analysis, and have isolated a gene that is mutated in FA-A patients. The gene encodes a protein of 1,455 amino acids that has no significant homology to any other known proteins, and may therefore represent a new class of genes associated with the prevention or repair of DNA damage.",
author = "Sinoula Apostolou and Whitmore, {Scott A.} and Joanna Crawford and Gregory Lennon and Sutherland, {Grant R.} and Callen, {David F.} and Leonarda Ianzano and Maria Savino and Maria D'apolito and Angelo Notarangelo and Elena Memeo and Piemontese, {Maria Rosaria} and Leopoldo Zelante and Anna Savoia and Gibson, {Rachel A.} and Tipping, {Alex J.} and Morgan, {Neil V.} and Sheila Hassock and Stander Jansen and {de Ravel}, {Thorny J.} and {Van Berkel}, Carola and Pronk, {Jan C.} and Easton, {Douglas F.} and Mathew, {Christopher G.} and Orna Levran and Verlander, {Peter C.} and Batish, {Sat Dev} and Tamar Erlich and Auerbach, {Arleen D.} and Cleton-Fansen, {Anne Marie} and Moerland, {Elna W.} and Cornelisse, {Cees J.} and Doggett, {Norman A.} and Deaven, {Larry L.} and Moyzis, {Robert K.} and {The Fanconi anaemia/Breast cancer consortium}",
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T1 - Positional cloning of the fanconi anaemia group A gene

AU - Apostolou, Sinoula

AU - Whitmore, Scott A.

AU - Crawford, Joanna

AU - Lennon, Gregory

AU - Sutherland, Grant R.

AU - Callen, David F.

AU - Ianzano, Leonarda

AU - Savino, Maria

AU - D'apolito, Maria

AU - Notarangelo, Angelo

AU - Memeo, Elena

AU - Piemontese, Maria Rosaria

AU - Zelante, Leopoldo

AU - Savoia, Anna

AU - Gibson, Rachel A.

AU - Tipping, Alex J.

AU - Morgan, Neil V.

AU - Hassock, Sheila

AU - Jansen, Stander

AU - de Ravel, Thorny J.

AU - Van Berkel, Carola

AU - Pronk, Jan C.

AU - Easton, Douglas F.

AU - Mathew, Christopher G.

AU - Levran, Orna

AU - Verlander, Peter C.

AU - Batish, Sat Dev

AU - Erlich, Tamar

AU - Auerbach, Arleen D.

AU - Cleton-Fansen, Anne Marie

AU - Moerland, Elna W.

AU - Cornelisse, Cees J.

AU - Doggett, Norman A.

AU - Deaven, Larry L.

AU - Moyzis, Robert K.

AU - The Fanconi anaemia/Breast cancer consortium

PY - 1996

Y1 - 1996

N2 - Fanconi anaemia (FA) is an autosomal recessive disorder associated with progressive bone-marrow failure, a variety of congenital abnormalities, and predisposition to acute myeloid leukaemia1. Cells from FA patients show increased sensitivity to bifunctional DNA crosslinking agents such as diepoxybutane and mitomycin C, with charac-teristic chromosome breakage2. FA is genetically heterogeneous, at least five different complementation groups (FA-A to FA-E) having been described3,4. The gene for group C (FAC) was cloned by functional complementation and mapped to chromosome 9q22.3 (refs 3,5), but the genes for the other complementation groups have not yet been identified. The group A gene [FAA) has recently been mapped to chromosome 16q24.3 by linkage analysis6, and accounts for 60-65% of FA cases7,8. We narrowed the candidate region by linkage and allelic association analysis, and have isolated a gene that is mutated in FA-A patients. The gene encodes a protein of 1,455 amino acids that has no significant homology to any other known proteins, and may therefore represent a new class of genes associated with the prevention or repair of DNA damage.

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