Clonal chromosome rearrangements in a fibroblast strain from a patient affected by xeroderma pigmentosum (complementation group C)

F. Nuzzo, P. Lagomarsini, A. Casati, R. Giorgi, E. Berardesca, M. Stefanini

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

We report the results of DNA repair studies and cytogenetic investigations in a patient presenting acute photosensitivity and cancerous skin lesions. In lymphocytes and fibroblasts a reduced level of unscheduled DNA synthesis after UV irradiation was found and the presence of xeroderma pigmentosum, complementation group C, mutation was demonstrated by complementation analysis. In lymphocyte and fibroblast cultures the frequency of spontaneous chromosome gaps and breaks was normal, whereas the frequency of chromosome rearrangements was higher than expected. In fibroblasts from the 4th to the 18th passage of the culture, 4 reciprocal translocations with a clonal distribution were identified. The rearranged chromosomes were Nos. 2, 13, 14 and 15, Nos. 2 and 13 being both involved in 3 different translocations with breakpoints at 2q21, 2q31, 2p23 and 13q31, 13q12 or 3. The biological significance of this finding is discussed in view of a possible correlation with the DNA repair defect and a possible relevance in tumor development of specific chromosome rearrangements.

Original languageEnglish
Pages (from-to)209-215
Number of pages7
JournalMutation Research DNAging
Volume219
Issue number4
DOIs
Publication statusPublished - 1989

Fingerprint

Fibroblasts
Chromosomes
DNA Repair
Lymphocytes
Chromosome Breakage
Cytogenetics
Skin
Mutation
DNA
Complementation Group C Xeroderma Pigmentosum
Neoplasms

Keywords

  • Clonal chromosome rearrangements
  • DNA repair
  • Xeroderma pigmentosum

ASJC Scopus subject areas

  • Ageing
  • Genetics
  • Molecular Biology
  • Medicine(all)

Cite this

Clonal chromosome rearrangements in a fibroblast strain from a patient affected by xeroderma pigmentosum (complementation group C). / Nuzzo, F.; Lagomarsini, P.; Casati, A.; Giorgi, R.; Berardesca, E.; Stefanini, M.

In: Mutation Research DNAging, Vol. 219, No. 4, 1989, p. 209-215.

Research output: Contribution to journalArticle

Nuzzo, F. ; Lagomarsini, P. ; Casati, A. ; Giorgi, R. ; Berardesca, E. ; Stefanini, M. / Clonal chromosome rearrangements in a fibroblast strain from a patient affected by xeroderma pigmentosum (complementation group C). In: Mutation Research DNAging. 1989 ; Vol. 219, No. 4. pp. 209-215.
@article{039b6d8933a14be0802d59b4c375d2f7,
title = "Clonal chromosome rearrangements in a fibroblast strain from a patient affected by xeroderma pigmentosum (complementation group C)",
abstract = "We report the results of DNA repair studies and cytogenetic investigations in a patient presenting acute photosensitivity and cancerous skin lesions. In lymphocytes and fibroblasts a reduced level of unscheduled DNA synthesis after UV irradiation was found and the presence of xeroderma pigmentosum, complementation group C, mutation was demonstrated by complementation analysis. In lymphocyte and fibroblast cultures the frequency of spontaneous chromosome gaps and breaks was normal, whereas the frequency of chromosome rearrangements was higher than expected. In fibroblasts from the 4th to the 18th passage of the culture, 4 reciprocal translocations with a clonal distribution were identified. The rearranged chromosomes were Nos. 2, 13, 14 and 15, Nos. 2 and 13 being both involved in 3 different translocations with breakpoints at 2q21, 2q31, 2p23 and 13q31, 13q12 or 3. The biological significance of this finding is discussed in view of a possible correlation with the DNA repair defect and a possible relevance in tumor development of specific chromosome rearrangements.",
keywords = "Clonal chromosome rearrangements, DNA repair, Xeroderma pigmentosum",
author = "F. Nuzzo and P. Lagomarsini and A. Casati and R. Giorgi and E. Berardesca and M. Stefanini",
year = "1989",
doi = "10.1016/0921-8734(89)90002-7",
language = "English",
volume = "219",
pages = "209--215",
journal = "Mutation Research DNAging",
issn = "0921-8734",
publisher = "Elsevier BV",
number = "4",

}

TY - JOUR

T1 - Clonal chromosome rearrangements in a fibroblast strain from a patient affected by xeroderma pigmentosum (complementation group C)

AU - Nuzzo, F.

AU - Lagomarsini, P.

AU - Casati, A.

AU - Giorgi, R.

AU - Berardesca, E.

AU - Stefanini, M.

PY - 1989

Y1 - 1989

N2 - We report the results of DNA repair studies and cytogenetic investigations in a patient presenting acute photosensitivity and cancerous skin lesions. In lymphocytes and fibroblasts a reduced level of unscheduled DNA synthesis after UV irradiation was found and the presence of xeroderma pigmentosum, complementation group C, mutation was demonstrated by complementation analysis. In lymphocyte and fibroblast cultures the frequency of spontaneous chromosome gaps and breaks was normal, whereas the frequency of chromosome rearrangements was higher than expected. In fibroblasts from the 4th to the 18th passage of the culture, 4 reciprocal translocations with a clonal distribution were identified. The rearranged chromosomes were Nos. 2, 13, 14 and 15, Nos. 2 and 13 being both involved in 3 different translocations with breakpoints at 2q21, 2q31, 2p23 and 13q31, 13q12 or 3. The biological significance of this finding is discussed in view of a possible correlation with the DNA repair defect and a possible relevance in tumor development of specific chromosome rearrangements.

AB - We report the results of DNA repair studies and cytogenetic investigations in a patient presenting acute photosensitivity and cancerous skin lesions. In lymphocytes and fibroblasts a reduced level of unscheduled DNA synthesis after UV irradiation was found and the presence of xeroderma pigmentosum, complementation group C, mutation was demonstrated by complementation analysis. In lymphocyte and fibroblast cultures the frequency of spontaneous chromosome gaps and breaks was normal, whereas the frequency of chromosome rearrangements was higher than expected. In fibroblasts from the 4th to the 18th passage of the culture, 4 reciprocal translocations with a clonal distribution were identified. The rearranged chromosomes were Nos. 2, 13, 14 and 15, Nos. 2 and 13 being both involved in 3 different translocations with breakpoints at 2q21, 2q31, 2p23 and 13q31, 13q12 or 3. The biological significance of this finding is discussed in view of a possible correlation with the DNA repair defect and a possible relevance in tumor development of specific chromosome rearrangements.

KW - Clonal chromosome rearrangements

KW - DNA repair

KW - Xeroderma pigmentosum

UR - http://www.scopus.com/inward/record.url?scp=0024461539&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0024461539&partnerID=8YFLogxK

U2 - 10.1016/0921-8734(89)90002-7

DO - 10.1016/0921-8734(89)90002-7

M3 - Article

C2 - 2770768

AN - SCOPUS:0024461539

VL - 219

SP - 209

EP - 215

JO - Mutation Research DNAging

JF - Mutation Research DNAging

SN - 0921-8734

IS - 4

ER -