ArticleHuman genetics1995
Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183).
Article in Human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Ubiquitous expression of the rtTA2S-M2 inducible system in transgenic mice driven by the human hnRNPA2B1/CBX3 CpG island.BMC developmental biology · 2007Article
- Multiple interactions between regulatory regions are required to stabilize an active chromatin hub.Genes & development · 2004Article
- In vivo transposition of Minos, a Drosophila mobile element, in mammalian tissues.Proceedings of the National Academy of Sciences of the United States of America · 2001Article
- Baculovirus infection of nondividing mammalian cells: mechanisms of entry and nuclear transport of capsids.Journal of virology · 2001Article
- An intrinsic but cell-nonautonomous defect in GATA-1-overexpressing mouse erythroid cells.Nature · 2000Article
- Organization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respiration.The Biochemical journal · 2000Article
- Murine MHC class II locus control region drives expression of human beta-glucocerebrosidase in antigen presenting cells of transgenic mice.Gene therapy · 1999Article
- Article
- Intergenic transcription and transinduction of the human beta-globin locus.Genes & development · 1997Article
- Persistent fetal gamma-globin expression in adult transgenic mice following deletion of two silencer elements located 3' to the human Agamma-globin gene.Molecular medicine (Cambridge, Mass.)Article
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10 authors.
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Abstract
The majority of patients with DiGeorge syndrome (DGS) and velo-cardio-facial syndrome (VCFS) and a minority of patients with non-syndromic conotruncal heart defects are hemizygous for a region of chromosome 22q11. The chromosomal region that is commonly deleted is larger than 2 Mb. It has not been possible to narrow the smallest region of overlap (SRO) of the deletions to less than ca 500 kb, which suggests that DGS/VCFS might be a contiguous gene syndrome. The saturation cloning of the SRO is being carried out, and one gene (TUPLE1) has been identified. By using a cosmid probe (M51) and fluorescence in situ hybridization, we show here that the anonymous DNA marker locus D22S183 is within the SRO, between TUPLE1 and D22S75 (probe N25). A second locus with weak homology to D22S183, recognized by cosmid M56, lies immediately outside the common SRO of the DGS and VCFS deletions, but inside the SRO of the DGS deletions. D22S183 sequences are strongly conserved in primates and weaker hybridizing signals are found in DNA of other mammalian species; no transcripts are however detected in polyA+ RNA from various adult human organs. Probe M51 allows fast reliable screening for 22q11 deletions using fluorescence in situ hybridization. A deletion was found in 11 out of 12 DGS patients and in 3 out of 7 VCFS patients. Two patients inherited the deletion from a parent with mild (atypical) symptoms.
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