Somatic mosaicism for copy number variation in differentiated human tissues

Arkadiusz Piotrowski; Carl E G Bruder; Robin Andersson; Teresita Diaz de Ståhl; Uwe Menzel; Johanna Sandgren; Andrzej Poplawski; Desiree von Tell; Chiquito Crasto; Adam Bogdan; Rafal Bartoszewski; Zsuzsa Bebok; Maciej Krzyzanowski; Zbigniew Jankowski; E Christopher Partridge; Jan Komorowski; Jan P Dumanski

doi:10.1002/humu.20815

Somatic mosaicism for copy number variation in differentiated human tissues

Arkadiusz Piotrowski, Carl E G Bruder, Robin Andersson, Teresita Diaz de Ståhl, Uwe Menzel, Johanna Sandgren, Andrzej Poplawski, Desiree von Tell, Chiquito Crasto, Adam Bogdan, Rafal Bartoszewski, Zsuzsa Bebok, Maciej Krzyzanowski, Zbigniew Jankowski, E Christopher Partridge, Jan Komorowski, Jan P Dumanski

160 Citations (Scopus)

Abstract

Two major types of genetic variation are known: single nucleotide polymorphisms (SNPs), and a more recently discovered structural variation, involving changes in copy number (CNVs) of kilobase- to megabase-sized chromosomal segments. It is unknown whether CNVs arise in somatic cells, but it is, however, generally assumed that normal cells are genetically identical. We tested 34 tissue samples from three subjects and, having analyzed for each tissue

Original language	English
Journal	Human Mutation
Volume	29
Issue number	9
Pages (from-to)	1118-24
Number of pages	7
ISSN	1059-7794
DOIs	https://doi.org/10.1002/humu.20815
Publication status	Published - Sept 2008
Externally published	Yes

Keywords

Adult
Chromosomes, Human
Gene Dosage
Genetic Predisposition to Disease
Genomics
Humans
Mosaicism
Oligonucleotide Array Sequence Analysis
Organ Specificity
Polymorphism, Genetic
Tissue Distribution

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1002/humu.20815

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Piotrowski, A., Bruder, C. E. G., Andersson, R., Diaz de Ståhl, T., Menzel, U., Sandgren, J., Poplawski, A., von Tell, D., Crasto, C., Bogdan, A., Bartoszewski, R., Bebok, Z., Krzyzanowski, M., Jankowski, Z., Partridge, E. C., Komorowski, J., & Dumanski, J. P. (2008). Somatic mosaicism for copy number variation in differentiated human tissues. Human Mutation, 29(9), 1118-24. https://doi.org/10.1002/humu.20815

Piotrowski, A, Bruder, CEG, Andersson, R, Diaz de Ståhl, T, Menzel, U, Sandgren, J, Poplawski, A, von Tell, D, Crasto, C, Bogdan, A, Bartoszewski, R, Bebok, Z, Krzyzanowski, M, Jankowski, Z, Partridge, EC, Komorowski, J & Dumanski, JP 2008, 'Somatic mosaicism for copy number variation in differentiated human tissues', Human Mutation, vol. 29, no. 9, pp. 1118-24. https://doi.org/10.1002/humu.20815

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AU - Piotrowski, Arkadiusz

AU - Bruder, Carl E G

AU - Andersson, Robin

AU - Diaz de Ståhl, Teresita

AU - Menzel, Uwe

AU - Sandgren, Johanna

AU - Poplawski, Andrzej

AU - von Tell, Desiree

AU - Crasto, Chiquito

AU - Bogdan, Adam

AU - Bartoszewski, Rafal

AU - Bebok, Zsuzsa

AU - Krzyzanowski, Maciej

AU - Jankowski, Zbigniew

AU - Partridge, E Christopher

AU - Komorowski, Jan

AU - Dumanski, Jan P

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KW - Adult

KW - Chromosomes, Human

KW - Gene Dosage

KW - Genetic Predisposition to Disease

KW - Genomics

KW - Humans

KW - Mosaicism

KW - Oligonucleotide Array Sequence Analysis

KW - Organ Specificity

KW - Polymorphism, Genetic

KW - Tissue Distribution

U2 - 10.1002/humu.20815

DO - 10.1002/humu.20815

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JO - Human Mutation

JF - Human Mutation

IS - 9

ER -

Somatic mosaicism for copy number variation in differentiated human tissues

Abstract

Keywords

UN SDGs

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