Human Reproduction and Disturbed Genomic Imprinting
Genomic imprinting is a specific mode of gene regulation which particularly accounts for the factors involved in development. Its disturbance affects the fetus, the course of pregnancy and even the health of the mother. In children, aberrant imprinting signatures are associated with imprinting disor...
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| Format: | Article |
| Language: | English |
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MDPI AG
2024-01-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/15/2/163 |
| _version_ | 1797298147834200064 |
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| author | Thomas Eggermann |
| author_facet | Thomas Eggermann |
| author_sort | Thomas Eggermann |
| collection | DOAJ |
| description | Genomic imprinting is a specific mode of gene regulation which particularly accounts for the factors involved in development. Its disturbance affects the fetus, the course of pregnancy and even the health of the mother. In children, aberrant imprinting signatures are associated with imprinting disorders (ImpDis). These alterations also affect the function of the placenta, which has consequences for the course of the pregnancy. The molecular causes of ImpDis comprise changes at the DNA level and methylation disturbances (imprinting defects/ImpDefs), and there is an increasing number of reports of both pathogenic fetal and maternal DNA variants causing ImpDefs. These ImpDefs can be inherited, but prediction of the pregnancy complications caused is difficult, as they can cause miscarriages, aneuploidies, health issues for the mother and ImpDis in the child. Due to the complexity of imprinting regulation, each pregnancy or patient with suspected altered genomic imprinting requires a specific workup to identify the precise molecular cause and also careful clinical documentation. This review will cover the current knowledge on the molecular causes of aberrant imprinting signatures and illustrate the need to identify this basis as the prerequisite for personalized genetic and reproductive counselling of families. |
| first_indexed | 2024-03-07T22:31:42Z |
| format | Article |
| id | doaj.art-7ca3884d8c304b248b8f1e4522149dfe |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-07T22:31:42Z |
| publishDate | 2024-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-7ca3884d8c304b248b8f1e4522149dfe2024-02-23T15:17:41ZengMDPI AGGenes2073-44252024-01-0115216310.3390/genes15020163Human Reproduction and Disturbed Genomic ImprintingThomas Eggermann0Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH University Aachen, Pauwelsstr. 3, D-52074 Aachen, GermanyGenomic imprinting is a specific mode of gene regulation which particularly accounts for the factors involved in development. Its disturbance affects the fetus, the course of pregnancy and even the health of the mother. In children, aberrant imprinting signatures are associated with imprinting disorders (ImpDis). These alterations also affect the function of the placenta, which has consequences for the course of the pregnancy. The molecular causes of ImpDis comprise changes at the DNA level and methylation disturbances (imprinting defects/ImpDefs), and there is an increasing number of reports of both pathogenic fetal and maternal DNA variants causing ImpDefs. These ImpDefs can be inherited, but prediction of the pregnancy complications caused is difficult, as they can cause miscarriages, aneuploidies, health issues for the mother and ImpDis in the child. Due to the complexity of imprinting regulation, each pregnancy or patient with suspected altered genomic imprinting requires a specific workup to identify the precise molecular cause and also careful clinical documentation. This review will cover the current knowledge on the molecular causes of aberrant imprinting signatures and illustrate the need to identify this basis as the prerequisite for personalized genetic and reproductive counselling of families.https://www.mdpi.com/2073-4425/15/2/163genomic imprintingreproductive failureplacentapregnancy issues |
| spellingShingle | Thomas Eggermann Human Reproduction and Disturbed Genomic Imprinting Genes genomic imprinting reproductive failure placenta pregnancy issues |
| title | Human Reproduction and Disturbed Genomic Imprinting |
| title_full | Human Reproduction and Disturbed Genomic Imprinting |
| title_fullStr | Human Reproduction and Disturbed Genomic Imprinting |
| title_full_unstemmed | Human Reproduction and Disturbed Genomic Imprinting |
| title_short | Human Reproduction and Disturbed Genomic Imprinting |
| title_sort | human reproduction and disturbed genomic imprinting |
| topic | genomic imprinting reproductive failure placenta pregnancy issues |
| url | https://www.mdpi.com/2073-4425/15/2/163 |
| work_keys_str_mv | AT thomaseggermann humanreproductionanddisturbedgenomicimprinting |