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The fetal thymus has a unique genomic copy number profile resulting from physiological T cell receptor gene rearrangement

Valind, Anders LU ; HAIKAL, CAROLINE LU ; Klasson, M E K; Johansson, M C LU ; Gullander, J LU ; Soller, M LU ; Baldetorp, B LU and Gisselsson, David LU (2016) In Scientific Reports 6.
Abstract

Somatic mosaicism, the presence of genetically distinct cells within an organism, has been increasingly associated with human morbidity, ranging from being a cause of rare syndromes to a risk factor for common disorders such as malignancy and cardiovascular disease. Previous studies interrogating the normal prevalence of somatic mosaicism have focused on adults. We here present an estimate of the baseline frequency of somatic mosaic copy number variation (CNV) at the time around birth, by sampling eight different organs from a total of five fetuses and newborns. Overall we find a significantly lower frequency of organ specific (i.e. mosaic) CNVs as compared to adults (p = 0.003; Mann-Whitney U-test). The rate of somatic CNV in adults... (More)

Somatic mosaicism, the presence of genetically distinct cells within an organism, has been increasingly associated with human morbidity, ranging from being a cause of rare syndromes to a risk factor for common disorders such as malignancy and cardiovascular disease. Previous studies interrogating the normal prevalence of somatic mosaicism have focused on adults. We here present an estimate of the baseline frequency of somatic mosaic copy number variation (CNV) at the time around birth, by sampling eight different organs from a total of five fetuses and newborns. Overall we find a significantly lower frequency of organ specific (i.e. mosaic) CNVs as compared to adults (p = 0.003; Mann-Whitney U-test). The rate of somatic CNV in adults has been estimated to around 2.2 CNV per organ assayed. In contrast, after stringent filtering, we found no organ-private CNVs in fetuses or newborns with exception of the thymus. This organ exhibited a specific genome profile in the form of deletions resulting from polyclonal T-cell receptor rearrangements. This implies that somatic non-immune related CNVs, if present at birth, are typically confined to very small cell populations within organs.

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author
organization
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type
Contribution to journal
publication status
published
subject
in
Scientific Reports
volume
6
publisher
Nature Publishing Group
external identifiers
  • WOS:000372696900001
  • Scopus:84962315560
ISSN
2045-2322
DOI
10.1038/srep23500
language
English
LU publication?
yes
id
6c492a4b-7d52-4970-8a2f-8e1d377fef95
date added to LUP
2016-04-11 14:05:55
date last changed
2016-10-13 05:05:53
@misc{6c492a4b-7d52-4970-8a2f-8e1d377fef95,
  abstract     = {<p>Somatic mosaicism, the presence of genetically distinct cells within an organism, has been increasingly associated with human morbidity, ranging from being a cause of rare syndromes to a risk factor for common disorders such as malignancy and cardiovascular disease. Previous studies interrogating the normal prevalence of somatic mosaicism have focused on adults. We here present an estimate of the baseline frequency of somatic mosaic copy number variation (CNV) at the time around birth, by sampling eight different organs from a total of five fetuses and newborns. Overall we find a significantly lower frequency of organ specific (i.e. mosaic) CNVs as compared to adults (p = 0.003; Mann-Whitney U-test). The rate of somatic CNV in adults has been estimated to around 2.2 CNV per organ assayed. In contrast, after stringent filtering, we found no organ-private CNVs in fetuses or newborns with exception of the thymus. This organ exhibited a specific genome profile in the form of deletions resulting from polyclonal T-cell receptor rearrangements. This implies that somatic non-immune related CNVs, if present at birth, are typically confined to very small cell populations within organs.</p>},
  author       = {Valind, Anders and HAIKAL, CAROLINE and Klasson, M E K and Johansson, M C and Gullander, J and Soller, M and Baldetorp, B and Gisselsson, David},
  issn         = {2045-2322},
  language     = {eng},
  month        = {03},
  publisher    = {ARRAY(0x94ef258)},
  series       = {Scientific Reports},
  title        = {The fetal thymus has a unique genomic copy number profile resulting from physiological T cell receptor gene rearrangement},
  url          = {http://dx.doi.org/10.1038/srep23500},
  volume       = {6},
  year         = {2016},
}