Familial STAG2 germline mutation defines a new human cohesinopathy
Intellectual disability: mutation in cell cycle protein causes developmental disease A newly discovered developmental disease is characterized by mutations in a subunit of the cohesin protein involved in cell division. A team led by Sérgio Pena from GENE—Núcleo de Genética Médica, Brazil, and Hongta...
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2017
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oai:doaj.org-article:3329248fd048435d97c88eef013b18312021-12-02T15:10:32ZFamilial STAG2 germline mutation defines a new human cohesinopathy10.1038/s41525-017-0009-42056-7944https://doaj.org/article/3329248fd048435d97c88eef013b18312017-03-01T00:00:00Zhttps://doi.org/10.1038/s41525-017-0009-4https://doaj.org/toc/2056-7944Intellectual disability: mutation in cell cycle protein causes developmental disease A newly discovered developmental disease is characterized by mutations in a subunit of the cohesin protein involved in cell division. A team led by Sérgio Pena from GENE—Núcleo de Genética Médica, Brazil, and Hongtao Yu from the University of Texas Southwestern Medical Center, USA, describe a Brazilian family with five male relatives, all with intellectual deficiency, short stature, and other abnormalities. The family tree pointed toward an X-linked pattern of inheritance, so the researchers performed a network analysis of 24 genes on the X chromosome known to contribute to mental retardation. They found that all five individuals had a mutation in a gene called STAG2, which encodes a subunit of cohesin. The mutant STAG2 did not bind properly to other cohesin subunits in human cells, and patient-derived cells exhibited altered cell cycle profiles. The researchers propose calling the disease “STAG2-related X-linked intellectual deficiency”.Fernanda C. SoardiAlice Machado-SilvaNatália D. LinharesGe ZhengQianhui QuHeloísa B. PenaThaís M. M. MartinsHelaine G. S. VieiraNúbia B. PereiraRaquel C. Melo-MinardiCarolina C. GomesRicardo S. GomezDawidson A. GomesDouglas E. V. PiresDavid B. AscherHongtao YuSérgio D. J. PenaNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 2, Iss 1, Pp 1-11 (2017) |
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Medicine R Genetics QH426-470 |
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Medicine R Genetics QH426-470 Fernanda C. Soardi Alice Machado-Silva Natália D. Linhares Ge Zheng Qianhui Qu Heloísa B. Pena Thaís M. M. Martins Helaine G. S. Vieira Núbia B. Pereira Raquel C. Melo-Minardi Carolina C. Gomes Ricardo S. Gomez Dawidson A. Gomes Douglas E. V. Pires David B. Ascher Hongtao Yu Sérgio D. J. Pena Familial STAG2 germline mutation defines a new human cohesinopathy |
| description |
Intellectual disability: mutation in cell cycle protein causes developmental disease A newly discovered developmental disease is characterized by mutations in a subunit of the cohesin protein involved in cell division. A team led by Sérgio Pena from GENE—Núcleo de Genética Médica, Brazil, and Hongtao Yu from the University of Texas Southwestern Medical Center, USA, describe a Brazilian family with five male relatives, all with intellectual deficiency, short stature, and other abnormalities. The family tree pointed toward an X-linked pattern of inheritance, so the researchers performed a network analysis of 24 genes on the X chromosome known to contribute to mental retardation. They found that all five individuals had a mutation in a gene called STAG2, which encodes a subunit of cohesin. The mutant STAG2 did not bind properly to other cohesin subunits in human cells, and patient-derived cells exhibited altered cell cycle profiles. The researchers propose calling the disease “STAG2-related X-linked intellectual deficiency”. |
| format |
article |
| author |
Fernanda C. Soardi Alice Machado-Silva Natália D. Linhares Ge Zheng Qianhui Qu Heloísa B. Pena Thaís M. M. Martins Helaine G. S. Vieira Núbia B. Pereira Raquel C. Melo-Minardi Carolina C. Gomes Ricardo S. Gomez Dawidson A. Gomes Douglas E. V. Pires David B. Ascher Hongtao Yu Sérgio D. J. Pena |
| author_facet |
Fernanda C. Soardi Alice Machado-Silva Natália D. Linhares Ge Zheng Qianhui Qu Heloísa B. Pena Thaís M. M. Martins Helaine G. S. Vieira Núbia B. Pereira Raquel C. Melo-Minardi Carolina C. Gomes Ricardo S. Gomez Dawidson A. Gomes Douglas E. V. Pires David B. Ascher Hongtao Yu Sérgio D. J. Pena |
| author_sort |
Fernanda C. Soardi |
| title |
Familial STAG2 germline mutation defines a new human cohesinopathy |
| title_short |
Familial STAG2 germline mutation defines a new human cohesinopathy |
| title_full |
Familial STAG2 germline mutation defines a new human cohesinopathy |
| title_fullStr |
Familial STAG2 germline mutation defines a new human cohesinopathy |
| title_full_unstemmed |
Familial STAG2 germline mutation defines a new human cohesinopathy |
| title_sort |
familial stag2 germline mutation defines a new human cohesinopathy |
| publisher |
Nature Portfolio |
| publishDate |
2017 |
| url |
https://doaj.org/article/3329248fd048435d97c88eef013b1831 |
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