Investigating the role of X chromosome breakpoints in premature ovarian failure

The importance of the genetic factor in the aetiology of premature ovarian failure (POF) is emphasized by the high percentage of familial cases and X chromosome abnormalities account for 10% of chromosomal aberrations. In this study, we report the detailed analysis of 4 chromosomal abnormalities inv...

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Bibliographic Details
Published in:Molecular cytogenetics 2012-07, Vol.5 (1), p.32-32, Article 32
Main Authors: Baronchelli, Simona, Villa, Nicoletta, Redaelli, Serena, Lissoni, Sara, Saccheri, Fabiana, Panzeri, Elena, Conconi, Donatella, Bentivegna, Angela, Crosti, Francesca, Sala, Elena, Bertola, Francesca, Marozzi, Anna, Pedicini, Antonio, Ventruto, Marialuisa, Police, Maria Adalgisa, Dalprà, Leda
Format: Article
Language:English
Subjects:
Age
Analysis
Bioinformatics
Breakpoint definition
Breakpoints
chromosome 19
Chromosome aberrations
Chromosome translocations
Cytogenetics
Genes
Genetic aspects
Genetic factors
Genetics
Genomes
Infertility, Female
Instrument industry
Investigations
Karyotypes
Literature reviews
Menopause
Physiological aspects
Position effects
Premature ovarian failure
Risk factors
Software
X chromosome
X chromosome structural aberrations
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Summary:The importance of the genetic factor in the aetiology of premature ovarian failure (POF) is emphasized by the high percentage of familial cases and X chromosome abnormalities account for 10% of chromosomal aberrations. In this study, we report the detailed analysis of 4 chromosomal abnormalities involving the X chromosome and associated with POF that were detected during a screening of 269 affected women. Conventional and molecular cytogenetics were valuable tools for locating the breakpoint regions and thus the following karyotypes were defined: 46,X,der(X)t(X;19)(p21.1;q13.42)mat, 46,X,t(X;2)(q21.33;q14.3)dn, 46,X,der(X)t(X;Y)(q26.2;q11.223)mat and 46,X,t(X;13)(q13.3;q31)dn. A bioinformatic analysis of the breakpoint regions identified putative candidate genes for ovarian failure near the breakpoint regions on the X chromosome or on autosomes that were involved in the translocation event. HS6ST1, HS6ST2 and MATER genes were identified and their functions and a literature review revealed an interesting connection to the POF phenotype. Moreover, the 19q13.32 locus is associated with the age of onset of the natural menopause. These results support the position effect of the breakpoint on flanking genes, and cytogenetic techniques, in combination with bioinformatic analysis, may help to improve what is known about this puzzling disorder and its diagnostic potential.
ISSN:1755-8166
1755-8166
DOI:10.1186/1755-8166-5-32