Telomere shortening and telomere position effect in mild ring 17 syndrome

Cecilia Surace, Francesco Berardinelli, Andrea Masotti, Maria Cristina Roberti, Letizia Da Sacco, Gemma D'Elia, Pietro Sirleto, Maria Cristina Digilio, Raffaella Cusmai, Simona Grotta, Stefano Petrocchi, May El Hachem, Elisa Pisaneschi, Laura Ciocca, Serena Russo, Francesca Romana Lepri, Antonella Sgura, Adriano Angioni

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Background: Ring chromosome 17 syndrome is a rare disease that arises from the breakage and reunion of the short and long arms of chromosome 17. Usually this abnormality results in deletion of genetic material, which explains the clinical features of the syndrome. Moreover, similar phenotypic features have been observed in cases with complete or partial loss of the telomeric repeats and conservation of the euchromatic regions. We studied two different cases of ring 17 syndrome, firstly, to clarify, by analyzing gene expression analysis using real-time qPCR, the role of the telomere absence in relationship with the clinical symptoms, and secondly, to look for a new model of the mechanism of ring chromosome transmission in a rare case of familial mosaicism, through cytomolecular and quantitative fluorescence in-situ hybridization (Q-FISH) investigations. Results: The results for the first case showed that the expression levels of genes selected, which were located close to the p and q ends of chromosome 17, were significantly downregulated in comparison with controls. Moreover, for the second case, we demonstrated that the telomeres were conserved, but were significantly shorter than those of age-matched controls; data from segregation analysis showed that the ring chromosome was transmitted only to the affected subjects of the family. Conclusions: Subtelomeric gene regulation is responsible for the phenotypic aspects of ring 17 syndrome; telomere shortening influences the phenotypic spectrum of this disease and strongly contributes to the familial transmission of the mosaic ring. Together, these results provide new insights into the genotype-phenotype relationships in mild ring 17 syndrome.

Original languageEnglish
Article number1
JournalEpigenetics and Chromatin
Volume7
Issue number1
DOIs
Publication statusPublished - Jan 7 2014

Fingerprint

Telomere Shortening
Telomere
Ring Chromosomes
Chromosomes, Human, Pair 17
Reunion
Gene Expression
Mosaicism
Rare Diseases
Fluorescence In Situ Hybridization
Genes
Down-Regulation
Genotype
Phenotype

Keywords

  • Genetic syndrome
  • Ring 17 chromosome
  • Telomere position effect
  • Telomere shortening

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology

Cite this

Telomere shortening and telomere position effect in mild ring 17 syndrome. / Surace, Cecilia; Berardinelli, Francesco; Masotti, Andrea; Roberti, Maria Cristina; Da Sacco, Letizia; D'Elia, Gemma; Sirleto, Pietro; Digilio, Maria Cristina; Cusmai, Raffaella; Grotta, Simona; Petrocchi, Stefano; Hachem, May El; Pisaneschi, Elisa; Ciocca, Laura; Russo, Serena; Lepri, Francesca Romana; Sgura, Antonella; Angioni, Adriano.

In: Epigenetics and Chromatin, Vol. 7, No. 1, 1, 07.01.2014.

Research output: Contribution to journalArticle

Surace, Cecilia ; Berardinelli, Francesco ; Masotti, Andrea ; Roberti, Maria Cristina ; Da Sacco, Letizia ; D'Elia, Gemma ; Sirleto, Pietro ; Digilio, Maria Cristina ; Cusmai, Raffaella ; Grotta, Simona ; Petrocchi, Stefano ; Hachem, May El ; Pisaneschi, Elisa ; Ciocca, Laura ; Russo, Serena ; Lepri, Francesca Romana ; Sgura, Antonella ; Angioni, Adriano. / Telomere shortening and telomere position effect in mild ring 17 syndrome. In: Epigenetics and Chromatin. 2014 ; Vol. 7, No. 1.
@article{8561622f83aa408bbcf73b9718b02300,
title = "Telomere shortening and telomere position effect in mild ring 17 syndrome",
abstract = "Background: Ring chromosome 17 syndrome is a rare disease that arises from the breakage and reunion of the short and long arms of chromosome 17. Usually this abnormality results in deletion of genetic material, which explains the clinical features of the syndrome. Moreover, similar phenotypic features have been observed in cases with complete or partial loss of the telomeric repeats and conservation of the euchromatic regions. We studied two different cases of ring 17 syndrome, firstly, to clarify, by analyzing gene expression analysis using real-time qPCR, the role of the telomere absence in relationship with the clinical symptoms, and secondly, to look for a new model of the mechanism of ring chromosome transmission in a rare case of familial mosaicism, through cytomolecular and quantitative fluorescence in-situ hybridization (Q-FISH) investigations. Results: The results for the first case showed that the expression levels of genes selected, which were located close to the p and q ends of chromosome 17, were significantly downregulated in comparison with controls. Moreover, for the second case, we demonstrated that the telomeres were conserved, but were significantly shorter than those of age-matched controls; data from segregation analysis showed that the ring chromosome was transmitted only to the affected subjects of the family. Conclusions: Subtelomeric gene regulation is responsible for the phenotypic aspects of ring 17 syndrome; telomere shortening influences the phenotypic spectrum of this disease and strongly contributes to the familial transmission of the mosaic ring. Together, these results provide new insights into the genotype-phenotype relationships in mild ring 17 syndrome.",
keywords = "Genetic syndrome, Ring 17 chromosome, Telomere position effect, Telomere shortening",
author = "Cecilia Surace and Francesco Berardinelli and Andrea Masotti and Roberti, {Maria Cristina} and {Da Sacco}, Letizia and Gemma D'Elia and Pietro Sirleto and Digilio, {Maria Cristina} and Raffaella Cusmai and Simona Grotta and Stefano Petrocchi and Hachem, {May El} and Elisa Pisaneschi and Laura Ciocca and Serena Russo and Lepri, {Francesca Romana} and Antonella Sgura and Adriano Angioni",
year = "2014",
month = "1",
day = "7",
doi = "10.1186/1756-8935-7-1",
language = "English",
volume = "7",
journal = "Epigenetics and Chromatin",
issn = "1756-8935",
publisher = "BioMed Central",
number = "1",

}

TY - JOUR

T1 - Telomere shortening and telomere position effect in mild ring 17 syndrome

AU - Surace, Cecilia

AU - Berardinelli, Francesco

AU - Masotti, Andrea

AU - Roberti, Maria Cristina

AU - Da Sacco, Letizia

AU - D'Elia, Gemma

AU - Sirleto, Pietro

AU - Digilio, Maria Cristina

AU - Cusmai, Raffaella

AU - Grotta, Simona

AU - Petrocchi, Stefano

AU - Hachem, May El

AU - Pisaneschi, Elisa

AU - Ciocca, Laura

AU - Russo, Serena

AU - Lepri, Francesca Romana

AU - Sgura, Antonella

AU - Angioni, Adriano

PY - 2014/1/7

Y1 - 2014/1/7

N2 - Background: Ring chromosome 17 syndrome is a rare disease that arises from the breakage and reunion of the short and long arms of chromosome 17. Usually this abnormality results in deletion of genetic material, which explains the clinical features of the syndrome. Moreover, similar phenotypic features have been observed in cases with complete or partial loss of the telomeric repeats and conservation of the euchromatic regions. We studied two different cases of ring 17 syndrome, firstly, to clarify, by analyzing gene expression analysis using real-time qPCR, the role of the telomere absence in relationship with the clinical symptoms, and secondly, to look for a new model of the mechanism of ring chromosome transmission in a rare case of familial mosaicism, through cytomolecular and quantitative fluorescence in-situ hybridization (Q-FISH) investigations. Results: The results for the first case showed that the expression levels of genes selected, which were located close to the p and q ends of chromosome 17, were significantly downregulated in comparison with controls. Moreover, for the second case, we demonstrated that the telomeres were conserved, but were significantly shorter than those of age-matched controls; data from segregation analysis showed that the ring chromosome was transmitted only to the affected subjects of the family. Conclusions: Subtelomeric gene regulation is responsible for the phenotypic aspects of ring 17 syndrome; telomere shortening influences the phenotypic spectrum of this disease and strongly contributes to the familial transmission of the mosaic ring. Together, these results provide new insights into the genotype-phenotype relationships in mild ring 17 syndrome.

AB - Background: Ring chromosome 17 syndrome is a rare disease that arises from the breakage and reunion of the short and long arms of chromosome 17. Usually this abnormality results in deletion of genetic material, which explains the clinical features of the syndrome. Moreover, similar phenotypic features have been observed in cases with complete or partial loss of the telomeric repeats and conservation of the euchromatic regions. We studied two different cases of ring 17 syndrome, firstly, to clarify, by analyzing gene expression analysis using real-time qPCR, the role of the telomere absence in relationship with the clinical symptoms, and secondly, to look for a new model of the mechanism of ring chromosome transmission in a rare case of familial mosaicism, through cytomolecular and quantitative fluorescence in-situ hybridization (Q-FISH) investigations. Results: The results for the first case showed that the expression levels of genes selected, which were located close to the p and q ends of chromosome 17, were significantly downregulated in comparison with controls. Moreover, for the second case, we demonstrated that the telomeres were conserved, but were significantly shorter than those of age-matched controls; data from segregation analysis showed that the ring chromosome was transmitted only to the affected subjects of the family. Conclusions: Subtelomeric gene regulation is responsible for the phenotypic aspects of ring 17 syndrome; telomere shortening influences the phenotypic spectrum of this disease and strongly contributes to the familial transmission of the mosaic ring. Together, these results provide new insights into the genotype-phenotype relationships in mild ring 17 syndrome.

KW - Genetic syndrome

KW - Ring 17 chromosome

KW - Telomere position effect

KW - Telomere shortening

UR - http://www.scopus.com/inward/record.url?scp=84892173679&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84892173679&partnerID=8YFLogxK

U2 - 10.1186/1756-8935-7-1

DO - 10.1186/1756-8935-7-1

M3 - Article

AN - SCOPUS:84892173679

VL - 7

JO - Epigenetics and Chromatin

JF - Epigenetics and Chromatin

SN - 1756-8935

IS - 1

M1 - 1

ER -