X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells
BACKGROUND: Sexual dimorphism in DNA methylation levels is a recurrent epigenetic feature in different human cell types and has been implicated in predisposition to disease, such as psychiatric and autoimmune disorders. To elucidate the genetic origins of sex-specific DNA methylation, we examined DNA methylation levels in fibroblast cell lines and blood cells from individuals with different combinations of sex chromosome complements and sex phenotypes focusing on a single autosomal region--the differentially methylated region (DMR) in the promoter of the zona pellucida binding protein 2 (ZPBP2) as a reporter.
RESULTS: Our data show that the presence of the sex determining region Y (SRY) was associated with lower methylation levels, whereas higher X chromosome dosage in the absence of SRY led to an increase in DNA methylation levels at the ZPBP2 DMR. We mapped the X-linked modifier of DNA methylation to the long arm of chromosome X (Xq13-q21) and tested the impact of mutations in the ATRX and RLIM genes, located in this region, on methylation levels. Neither ATRX nor RLIM mutations influenced ZPBP2 methylation in female carriers.
CONCLUSIONS: We conclude that sex-specific methylation differences at the autosomal locus result from interaction between a Y-linked factor SRY and at least one X-linked factor that acts in a dose-dependent manner.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2018 |
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| Erschienen: |
2018 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:9 |
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| Enthalten in: |
Biology of sex differences - 9(2018), 1 vom: 20. Feb., Seite 10 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Ho, Bianca [VerfasserIn] |
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| Links: |
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| Themen: |
DNA methylation |
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| Anmerkungen: |
Date Completed 22.03.2019 Date Revised 13.03.2024 published: Electronic Citation Status MEDLINE |
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| doi: |
10.1186/s13293-018-0169-7 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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NLM281217335 |
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| 100 | 1 | |a Ho, Bianca |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells |
| 264 | 1 | |c 2018 | |
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| 500 | |a Date Completed 22.03.2019 | ||
| 500 | |a Date Revised 13.03.2024 | ||
| 500 | |a published: Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a BACKGROUND: Sexual dimorphism in DNA methylation levels is a recurrent epigenetic feature in different human cell types and has been implicated in predisposition to disease, such as psychiatric and autoimmune disorders. To elucidate the genetic origins of sex-specific DNA methylation, we examined DNA methylation levels in fibroblast cell lines and blood cells from individuals with different combinations of sex chromosome complements and sex phenotypes focusing on a single autosomal region--the differentially methylated region (DMR) in the promoter of the zona pellucida binding protein 2 (ZPBP2) as a reporter | ||
| 520 | |a RESULTS: Our data show that the presence of the sex determining region Y (SRY) was associated with lower methylation levels, whereas higher X chromosome dosage in the absence of SRY led to an increase in DNA methylation levels at the ZPBP2 DMR. We mapped the X-linked modifier of DNA methylation to the long arm of chromosome X (Xq13-q21) and tested the impact of mutations in the ATRX and RLIM genes, located in this region, on methylation levels. Neither ATRX nor RLIM mutations influenced ZPBP2 methylation in female carriers | ||
| 520 | |a CONCLUSIONS: We conclude that sex-specific methylation differences at the autosomal locus result from interaction between a Y-linked factor SRY and at least one X-linked factor that acts in a dose-dependent manner | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a DNA methylation | |
| 650 | 4 | |a Sex | |
| 650 | 4 | |a X chromosome | |
| 650 | 4 | |a Y chromosome | |
| 650 | 7 | |a Egg Proteins |2 NLM | |
| 650 | 7 | |a Membrane Proteins |2 NLM | |
| 650 | 7 | |a ZPBP2 protein, human |2 NLM | |
| 700 | 1 | |a Greenlaw, Keelin |e verfasserin |4 aut | |
| 700 | 1 | |a Al Tuwaijri, Abeer |e verfasserin |4 aut | |
| 700 | 1 | |a Moussette, Sanny |e verfasserin |4 aut | |
| 700 | 1 | |a Martínez, Francisco |e verfasserin |4 aut | |
| 700 | 1 | |a Giorgio, Elisa |e verfasserin |4 aut | |
| 700 | 1 | |a Brusco, Alfredo |e verfasserin |4 aut | |
| 700 | 1 | |a Ferrero, Giovanni Battista |e verfasserin |4 aut | |
| 700 | 1 | |a Linhares, Natália D |e verfasserin |4 aut | |
| 700 | 1 | |a Valadares, Eugênia R |e verfasserin |4 aut | |
| 700 | 1 | |a Svartman, Marta |e verfasserin |4 aut | |
| 700 | 1 | |a Kalscheuer, Vera M |e verfasserin |4 aut | |
| 700 | 1 | |a Rodríguez Criado, Germán |e verfasserin |4 aut | |
| 700 | 1 | |a Laprise, Catherine |e verfasserin |4 aut | |
| 700 | 1 | |a Greenwood, Celia M T |e verfasserin |4 aut | |
| 700 | 1 | |a Naumova, Anna K |e verfasserin |4 aut | |
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