Investigating the role of X chromosome breakpoints in premature ovarian failure
<p>Abstract</p> <p>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 analys...
| Main Authors: | , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2012-07-01
|
| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | http://www.molecularcytogenetics.org/content/5/1/32 |
| _version_ | 1818485019777171456 |
|---|---|
| author | 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 Dalprà Leda |
| author_facet | 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 Dalprà Leda |
| author_sort | Baronchelli Simona |
| collection | DOAJ |
| description | <p>Abstract</p> <p>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.</p> |
| first_indexed | 2024-12-10T16:02:34Z |
| format | Article |
| id | doaj.art-d53b5809b4454f0e9620dfdd40526bd1 |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-10T16:02:34Z |
| publishDate | 2012-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-d53b5809b4454f0e9620dfdd40526bd12022-12-22T01:42:22ZengBMCMolecular Cytogenetics1755-81662012-07-01513210.1186/1755-8166-5-32Investigating the role of X chromosome breakpoints in premature ovarian failureBaronchelli SimonaVilla NicolettaRedaelli SerenaLissoni SaraSaccheri FabianaPanzeri ElenaConconi DonatellaBentivegna AngelaCrosti FrancescaSala ElenaBertola FrancescaMarozzi AnnaPedicini AntonioVentruto MarialuisaPolice MariaDalprà Leda<p>Abstract</p> <p>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.</p>http://www.molecularcytogenetics.org/content/5/1/32Breakpoint definitionPremature ovarian failureX chromosome structural aberrations |
| spellingShingle | 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 Dalprà Leda Investigating the role of X chromosome breakpoints in premature ovarian failure Molecular Cytogenetics Breakpoint definition Premature ovarian failure X chromosome structural aberrations |
| title | Investigating the role of X chromosome breakpoints in premature ovarian failure |
| title_full | Investigating the role of X chromosome breakpoints in premature ovarian failure |
| title_fullStr | Investigating the role of X chromosome breakpoints in premature ovarian failure |
| title_full_unstemmed | Investigating the role of X chromosome breakpoints in premature ovarian failure |
| title_short | Investigating the role of X chromosome breakpoints in premature ovarian failure |
| title_sort | investigating the role of x chromosome breakpoints in premature ovarian failure |
| topic | Breakpoint definition Premature ovarian failure X chromosome structural aberrations |
| url | http://www.molecularcytogenetics.org/content/5/1/32 |
| work_keys_str_mv | AT baronchellisimona investigatingtheroleofxchromosomebreakpointsinprematureovarianfailure AT villanicoletta investigatingtheroleofxchromosomebreakpointsinprematureovarianfailure AT redaelliserena investigatingtheroleofxchromosomebreakpointsinprematureovarianfailure AT lissonisara investigatingtheroleofxchromosomebreakpointsinprematureovarianfailure AT saccherifabiana investigatingtheroleofxchromosomebreakpointsinprematureovarianfailure AT panzerielena investigatingtheroleofxchromosomebreakpointsinprematureovarianfailure AT conconidonatella investigatingtheroleofxchromosomebreakpointsinprematureovarianfailure AT bentivegnaangela investigatingtheroleofxchromosomebreakpointsinprematureovarianfailure AT crostifrancesca investigatingtheroleofxchromosomebreakpointsinprematureovarianfailure AT salaelena investigatingtheroleofxchromosomebreakpointsinprematureovarianfailure AT bertolafrancesca investigatingtheroleofxchromosomebreakpointsinprematureovarianfailure AT marozzianna investigatingtheroleofxchromosomebreakpointsinprematureovarianfailure AT pediciniantonio investigatingtheroleofxchromosomebreakpointsinprematureovarianfailure AT ventrutomarialuisa investigatingtheroleofxchromosomebreakpointsinprematureovarianfailure AT policemaria investigatingtheroleofxchromosomebreakpointsinprematureovarianfailure AT dalpraleda investigatingtheroleofxchromosomebreakpointsinprematureovarianfailure |