Cohesinopathies of a feather flock together.
Roberts Syndrome (RBS) and Cornelia de Lange Syndrome (CdLS) are severe developmental maladies that present with nearly an identical suite of multi-spectrum birth defects. Not surprisingly, RBS and CdLS arise from mutations within a single pathway--here involving cohesion. Sister chromatid tethering...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2013-01-01
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| Series: | PLoS Genetics |
| Online Access: | http://europepmc.org/articles/PMC3868590?pdf=render |
| _version_ | 1811261657423282176 |
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| author | Robert V Skibbens Jennifer M Colquhoun Megan J Green Cody A Molnar Danielle N Sin Brian J Sullivan Eden E Tanzosh |
| author_facet | Robert V Skibbens Jennifer M Colquhoun Megan J Green Cody A Molnar Danielle N Sin Brian J Sullivan Eden E Tanzosh |
| author_sort | Robert V Skibbens |
| collection | DOAJ |
| description | Roberts Syndrome (RBS) and Cornelia de Lange Syndrome (CdLS) are severe developmental maladies that present with nearly an identical suite of multi-spectrum birth defects. Not surprisingly, RBS and CdLS arise from mutations within a single pathway--here involving cohesion. Sister chromatid tethering reactions that comprise cohesion are required for high fidelity chromosome segregation, but cohesin tethers also regulate gene transcription, promote DNA repair, and impact DNA replication. Currently, RBS is thought to arise from elevated levels of apoptosis, mitotic failure, and limited progenitor cell proliferation, while CdLS is thought to arise, instead, from transcription dysregulation. Here, we review new information that implicates RBS gene mutations in altered transcription profiles. We propose that cohesin-dependent transcription dysregulation may extend to other developmental maladies; the diagnoses of which are complicated through multi-functional proteins that manifest a sliding scale of diverse and severe phenotypes. We further review evidence that cohesinopathies are more common than currently posited. |
| first_indexed | 2024-04-12T19:09:39Z |
| format | Article |
| id | doaj.art-04da4069aadf4b8497d5eb7b5aa12c3b |
| institution | Directory Open Access Journal |
| issn | 1553-7390 1553-7404 |
| language | English |
| last_indexed | 2024-04-12T19:09:39Z |
| publishDate | 2013-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS Genetics |
| spelling | doaj.art-04da4069aadf4b8497d5eb7b5aa12c3b2022-12-22T03:19:55ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042013-01-01912e100403610.1371/journal.pgen.1004036Cohesinopathies of a feather flock together.Robert V SkibbensJennifer M ColquhounMegan J GreenCody A MolnarDanielle N SinBrian J SullivanEden E TanzoshRoberts Syndrome (RBS) and Cornelia de Lange Syndrome (CdLS) are severe developmental maladies that present with nearly an identical suite of multi-spectrum birth defects. Not surprisingly, RBS and CdLS arise from mutations within a single pathway--here involving cohesion. Sister chromatid tethering reactions that comprise cohesion are required for high fidelity chromosome segregation, but cohesin tethers also regulate gene transcription, promote DNA repair, and impact DNA replication. Currently, RBS is thought to arise from elevated levels of apoptosis, mitotic failure, and limited progenitor cell proliferation, while CdLS is thought to arise, instead, from transcription dysregulation. Here, we review new information that implicates RBS gene mutations in altered transcription profiles. We propose that cohesin-dependent transcription dysregulation may extend to other developmental maladies; the diagnoses of which are complicated through multi-functional proteins that manifest a sliding scale of diverse and severe phenotypes. We further review evidence that cohesinopathies are more common than currently posited.http://europepmc.org/articles/PMC3868590?pdf=render |
| spellingShingle | Robert V Skibbens Jennifer M Colquhoun Megan J Green Cody A Molnar Danielle N Sin Brian J Sullivan Eden E Tanzosh Cohesinopathies of a feather flock together. PLoS Genetics |
| title | Cohesinopathies of a feather flock together. |
| title_full | Cohesinopathies of a feather flock together. |
| title_fullStr | Cohesinopathies of a feather flock together. |
| title_full_unstemmed | Cohesinopathies of a feather flock together. |
| title_short | Cohesinopathies of a feather flock together. |
| title_sort | cohesinopathies of a feather flock together |
| url | http://europepmc.org/articles/PMC3868590?pdf=render |
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