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Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells.

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Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells. / Roehl, Angelika C; Mussotter, Tanja; Cooper, David N; Kluwe, Lan; Wimmer, Katharina; Högel, Josef; Zetzmann, Marion; Vogt, Julia; Mautner, Viktor Felix; Kehrer-Sawatzki, Hildegard.

in: HUM MUTAT, Jahrgang 33, Nr. 3, 3, 2012, S. 541-550.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Roehl, AC, Mussotter, T, Cooper, DN, Kluwe, L, Wimmer, K, Högel, J, Zetzmann, M, Vogt, J, Mautner, VF & Kehrer-Sawatzki, H 2012, 'Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells.', HUM MUTAT, Jg. 33, Nr. 3, 3, S. 541-550. <http://www.ncbi.nlm.nih.gov/pubmed/22190464?dopt=Citation>

APA

Roehl, A. C., Mussotter, T., Cooper, D. N., Kluwe, L., Wimmer, K., Högel, J., Zetzmann, M., Vogt, J., Mautner, V. F., & Kehrer-Sawatzki, H. (2012). Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells. HUM MUTAT, 33(3), 541-550. [3]. http://www.ncbi.nlm.nih.gov/pubmed/22190464?dopt=Citation

Vancouver

Roehl AC, Mussotter T, Cooper DN, Kluwe L, Wimmer K, Högel J et al. Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells. HUM MUTAT. 2012;33(3):541-550. 3.

Bibtex

@article{3f80e3084b454d828e14412a717363d6,
title = "Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells.",
abstract = "Type-2 NF1 deletions spanning 1.2 Mb are frequently of postzygotic origin and hence tend to be associated with mosaicism for normal cells and those harboring the deletion (del(+/-) cells). Eleven patients with mosaic type-2 deletions were investigated by FISH and high proportions (94-99%) of del(+/-) cells were detected both in whole blood and in isolated CD3+, CD14+, CD15+, and CD19+ leukocytes. Significantly lower proportions of del(+/-) cells (24-82%) were however noted in urine-derived epithelial cells. A patient harboring an atypical large NF1 deletion with nonrecurrent breakpoints was also found to have a much higher proportion of del(+/-) cells in blood (96%) than in urine (51%). The tissue-specific differences in the proportions of del(+/-) cells as well as the X chromosome inactivation (XCI) patterns observed in these mosaic patients suggest that the majority of the deletions had occurred before or during the preimplantation blastocyst stage before the onset of XCI. We postulate that hematopoietic del(+/-) stem cells present at an early developmental stage are characterized by a selective growth advantage over normal cells lacking the deletion, leading to a high proportion of del(+/-) cells in peripheral blood from the affected patients.",
keywords = "Adult, Humans, Female, Middle Aged, Adolescent, Young Adult, Child, Cells, Cultured, Chromosome Deletion, Neurofibromin 1/*genetics, Neurofibromatosis 1/*genetics, Chromosomes, Human, X/genetics, Hematopoietic Stem Cells/*cytology/metabolism, Adult, Humans, Female, Middle Aged, Adolescent, Young Adult, Child, Cells, Cultured, Chromosome Deletion, Neurofibromin 1/*genetics, Neurofibromatosis 1/*genetics, Chromosomes, Human, X/genetics, Hematopoietic Stem Cells/*cytology/metabolism",
author = "Roehl, {Angelika C} and Tanja Mussotter and Cooper, {David N} and Lan Kluwe and Katharina Wimmer and Josef H{\"o}gel and Marion Zetzmann and Julia Vogt and Mautner, {Viktor Felix} and Hildegard Kehrer-Sawatzki",
year = "2012",
language = "English",
volume = "33",
pages = "541--550",
journal = "HUM MUTAT",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "3",

}

RIS

TY - JOUR

T1 - Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells.

AU - Roehl, Angelika C

AU - Mussotter, Tanja

AU - Cooper, David N

AU - Kluwe, Lan

AU - Wimmer, Katharina

AU - Högel, Josef

AU - Zetzmann, Marion

AU - Vogt, Julia

AU - Mautner, Viktor Felix

AU - Kehrer-Sawatzki, Hildegard

PY - 2012

Y1 - 2012

N2 - Type-2 NF1 deletions spanning 1.2 Mb are frequently of postzygotic origin and hence tend to be associated with mosaicism for normal cells and those harboring the deletion (del(+/-) cells). Eleven patients with mosaic type-2 deletions were investigated by FISH and high proportions (94-99%) of del(+/-) cells were detected both in whole blood and in isolated CD3+, CD14+, CD15+, and CD19+ leukocytes. Significantly lower proportions of del(+/-) cells (24-82%) were however noted in urine-derived epithelial cells. A patient harboring an atypical large NF1 deletion with nonrecurrent breakpoints was also found to have a much higher proportion of del(+/-) cells in blood (96%) than in urine (51%). The tissue-specific differences in the proportions of del(+/-) cells as well as the X chromosome inactivation (XCI) patterns observed in these mosaic patients suggest that the majority of the deletions had occurred before or during the preimplantation blastocyst stage before the onset of XCI. We postulate that hematopoietic del(+/-) stem cells present at an early developmental stage are characterized by a selective growth advantage over normal cells lacking the deletion, leading to a high proportion of del(+/-) cells in peripheral blood from the affected patients.

AB - Type-2 NF1 deletions spanning 1.2 Mb are frequently of postzygotic origin and hence tend to be associated with mosaicism for normal cells and those harboring the deletion (del(+/-) cells). Eleven patients with mosaic type-2 deletions were investigated by FISH and high proportions (94-99%) of del(+/-) cells were detected both in whole blood and in isolated CD3+, CD14+, CD15+, and CD19+ leukocytes. Significantly lower proportions of del(+/-) cells (24-82%) were however noted in urine-derived epithelial cells. A patient harboring an atypical large NF1 deletion with nonrecurrent breakpoints was also found to have a much higher proportion of del(+/-) cells in blood (96%) than in urine (51%). The tissue-specific differences in the proportions of del(+/-) cells as well as the X chromosome inactivation (XCI) patterns observed in these mosaic patients suggest that the majority of the deletions had occurred before or during the preimplantation blastocyst stage before the onset of XCI. We postulate that hematopoietic del(+/-) stem cells present at an early developmental stage are characterized by a selective growth advantage over normal cells lacking the deletion, leading to a high proportion of del(+/-) cells in peripheral blood from the affected patients.

KW - Adult

KW - Humans

KW - Female

KW - Middle Aged

KW - Adolescent

KW - Young Adult

KW - Child

KW - Cells, Cultured

KW - Chromosome Deletion

KW - Neurofibromin 1/genetics

KW - Neurofibromatosis 1/genetics

KW - Chromosomes, Human, X/genetics

KW - Hematopoietic Stem Cells/cytology/metabolism

KW - Adult

KW - Humans

KW - Female

KW - Middle Aged

KW - Adolescent

KW - Young Adult

KW - Child

KW - Cells, Cultured

KW - Chromosome Deletion

KW - Neurofibromin 1/genetics

KW - Neurofibromatosis 1/genetics

KW - Chromosomes, Human, X/genetics

KW - Hematopoietic Stem Cells/cytology/metabolism

M3 - SCORING: Journal article

VL - 33

SP - 541

EP - 550

JO - HUM MUTAT

JF - HUM MUTAT

SN - 1059-7794

IS - 3

M1 - 3

ER -