Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome
| Autor: | Stephanie Halford, David I Wilson, Sara C.M. DAW, Cathrine Roberts, Roy Wadey, Shalan Kamath, Amal Wickremasinghe, John Burn, Judith Goodship, Marie-Genevieve Mattel, F.M. Moormon, Peter J. Sclambler |
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| Jazyk: | angličtina |
| Rok vydání: | 1993 |
| Předmět: |
Chromosomes
Human Pair 22 Molecular Sequence Data Gene Expression Locus (genetics) Hemizygosity Biology Embryonic and Fetal Development Mice Species Specificity Gene mapping DiGeorge syndrome DiGeorge Syndrome Genetics medicine Animals Humans Amino Acid Sequence Molecular Biology Gene Genetics (clinical) Base Sequence Intracellular Signaling Peptides and Proteins Chromosome Mapping Proteins General Medicine medicine.disease Molecular biology Major gene Genes Organ Specificity Protein Biosynthesis Haploinsufficiency Chromosome 22 |
| Zdroj: | Human molecular genetics. 2(10) |
| ISSN: | 1460-2083 0964-6906 |
| Popis: | DiGeorge syndrome (DGS) is one of several syndromes associated with deletions within the proximal long-arm of chromosome 22. The region of chromosome 22q11 responsible for the haploinsufficiency syndromes (the DiGeorge Critical Region or DGCR) has been mapped using RFLPs, quantitative Southern blotting and FISH. Similar deletions are seen in the velo-cardio-facial syndrome (VCFS) and familial congenital heart defects. It is not known whether the phenotypic spectrum is the result of the hemizygosity of one gene or whether it is a consequence of contiguous genes being deleted. However, the majority of patients have a large (> = 2Mb deletion). In this paper we report the isolation of a gene, lab name T10, encoding a serine/threonine rich protein of unknown function which maps to the commonly deleted region of chromosome 22q11. Studies in the mouse indicate that it maps to MMU16 and is expressed during early embryogenesis. Although not mapping within the shortest region of overlap for DGS/VCFS, and therefore not the major gene involved in DGS, the expression pattern suggests that this gene may be involved in modifying the haploinsufficient phenotype of hemizygous patients. |
| Databáze: | OpenAIRE |
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