Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.
A wide spectrum of birth defects are caused by deletions of the DiGeorge syndrome critical region (DGCR) at human chromosome 22q11. Over one hundred such deletions have now been examined and a minimally deleted region of 300kb defined. Within these sequences we have identified a gene expressed durin...
| Main Authors: | , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
1993
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| _version_ | 1797076513926938624 |
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| author | Halford, S Wadey, R Roberts, C Daw, S Whiting, J O'Donnell, H Dunham, I Bentley, D Lindsay, E Baldini, A |
| author_facet | Halford, S Wadey, R Roberts, C Daw, S Whiting, J O'Donnell, H Dunham, I Bentley, D Lindsay, E Baldini, A |
| author_sort | Halford, S |
| collection | OXFORD |
| description | A wide spectrum of birth defects are caused by deletions of the DiGeorge syndrome critical region (DGCR) at human chromosome 22q11. Over one hundred such deletions have now been examined and a minimally deleted region of 300kb defined. Within these sequences we have identified a gene expressed during human and murine embryogenesis. The gene, named TUPLE1, and its murine homologue, encodes a protein containing repeated motifs similar to the WD40 domains found in the beta-transducin/enhancer of split (TLE) family. The TUPLE1 product has several features typical of transcriptional control proteins and in particular has homology with the yeast Tup1 transcriptional regulator. We propose that haploinsufficiency for TUPLE1 is at least partly responsible for DiGeorge syndrome and related abnormalities. |
| first_indexed | 2024-03-07T00:04:47Z |
| format | Journal article |
| id | oxford-uuid:772e916d-8227-4a03-baee-0cc1c3139215 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T00:04:47Z |
| publishDate | 1993 |
| record_format | dspace |
| spelling | oxford-uuid:772e916d-8227-4a03-baee-0cc1c31392152022-03-26T20:22:02ZIsolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:772e916d-8227-4a03-baee-0cc1c3139215EnglishSymplectic Elements at Oxford1993Halford, SWadey, RRoberts, CDaw, SWhiting, JO'Donnell, HDunham, IBentley, DLindsay, EBaldini, AA wide spectrum of birth defects are caused by deletions of the DiGeorge syndrome critical region (DGCR) at human chromosome 22q11. Over one hundred such deletions have now been examined and a minimally deleted region of 300kb defined. Within these sequences we have identified a gene expressed during human and murine embryogenesis. The gene, named TUPLE1, and its murine homologue, encodes a protein containing repeated motifs similar to the WD40 domains found in the beta-transducin/enhancer of split (TLE) family. The TUPLE1 product has several features typical of transcriptional control proteins and in particular has homology with the yeast Tup1 transcriptional regulator. We propose that haploinsufficiency for TUPLE1 is at least partly responsible for DiGeorge syndrome and related abnormalities. |
| spellingShingle | Halford, S Wadey, R Roberts, C Daw, S Whiting, J O'Donnell, H Dunham, I Bentley, D Lindsay, E Baldini, A Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. |
| title | Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. |
| title_full | Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. |
| title_fullStr | Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. |
| title_full_unstemmed | Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. |
| title_short | Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. |
| title_sort | isolation of a putative transcriptional regulator from the region of 22q11 deleted in digeorge syndrome shprintzen syndrome and familial congenital heart disease |
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