التفاصيل البيبلوغرافية
| العنوان: |
A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51 |
| المؤلفون: |
Ameziane, Najim, May, Patrick, Haitjema, Anneke, Van De Vrugt, Henri J., Van Rossum-Fikkert, Sari E., Ristic, Dejan, Williams, Gareth J., Balk, Jesper, Rockx, Davy, Li, Hong, Rooimans, Martin A., Oostra, Anneke B., Velleuer, Eunike, Dietrich, Ralf, Bleijerveld, Onno B., Altelaar, Maarten, Meijers-Heijboer, Hanne, Joenje, Hans, Glusman, Gustavo, Roach, Jared, Hood, Leroy, Galas, David, Wyman, Claire, Balling, Rudi, Den Dunnen, Johan, De Winter, Johan P., Kanaar, Roland, Gelinas, Richard, Dorsman, Josephine C. |
| المساهمون: |
Biomolecular Mass Spectrometry and Proteomics, Sub Biomol.Mass Spect. and Proteomics |
| سنة النشر: |
2015 |
| مصطلحات موضوعية: |
General Biochemistry,Genetics and Molecular Biology, General Chemistry, General Physics and Astronomy |
| الوصف: |
Fanconi anaemia (FA) is a hereditary disease featuring hypersensitivity to DNA cross-linker-induced chromosomal instability in association with developmental abnormalities, bone marrow failure and a strong predisposition to cancer. A total of 17 FA disease genes have been reported, all of which act in a recessive mode of inheritance. Here we report on a de novo g.41022153G>A; p.Ala293Thr (NM-002875) missense mutation in one allele of the homologous recombination DNA repair gene RAD51 in an FA-like patient. This heterozygous mutation causes a novel FA subtype, 'FA-Rffrt ', which appears to be the first subtype of FA caused by a dominant-negative mutation. The patient, who features microcephaly and mental retardation, has reached adulthood without the typical bone marrow failure and paediatric cancers. Together with the recent reports on RAD51-associated congenital mirror movement disorders, our results point to an important role for RAD51-mediated homologous recombination in neurodevelopment, in addition to DNA repair and cancer susceptibility. |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
image/pdf |
| اللغة: |
English |
| تدمد: |
2041-1723 |
| Relation: |
https://dspace.library.uu.nl/handle/1874/327794 |
| الاتاحة: |
https://dspace.library.uu.nl/handle/1874/327794 |
| Rights: |
info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: |
edsbas.10BB5ED6 |
| قاعدة البيانات: |
BASE |
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