Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation
- 1 December 1997
- journal article
- research article
- Published by Springer Nature in Mammalian Genome
- Vol. 8 (12) , 890-895
Abstract
We have constructed a comparative map in mouse of the critical region of human 22q11 deleted in DiGeorge (DGS) and Velocardiofacial (VCFS) syndromes. The map includes 11 genes potentially haploinsufficient in these deletion syndromes. We have localized all the conserved genes to mouse Chromosome (Chr) 16, bands B1-B3. The determination of gene order shows the presence of two regions (distal and proximal), containing two groups of conserved genes. The gene order in the two regions is not completely conserved; only in the proximal group is the gene order identical to human. In the distal group the gene order is inverted. These two regions are separated by a DNA segment containing at least one gene which, in the human DGS region, is the most proximal of the known deleted genes. In addition, the gene order within the distal group of genes is inverted relative to the human gene order. Furthermore, a clathrin heavy chain-like gene was not found in the mouse genome by DNA hybridization, indicating that there is an inconsistent level of gene conservation in the region. These and other independent data obtained in our laboratory clearly show a complex evolutionary history of the DGS-VCFS region. Our data provide a framework for the development of a mouse model for the 22q11 deletion with chromosome engineering technologies.Keywords
This publication has 34 references indexed in Scilit:
- Assignment of the gene for a ubiquitin fusion degradation protein (Ufd1l) to mouse chromosome 16B1–B4, syntenic with the Tuple 1 geneCytogenetic and Genome Research, 1997
- Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11Human Molecular Genetics, 1996
- A Transcription Map in the CATCH22 Critical Region: Identification, Mapping, and Ordering of Four Novel Transcripts Expressed in HeartGenomics, 1996
- Localization of the Human Mitochondrial Citrate Transporter Protein Gene to Chromosome 22Q11 in the DiGeorge Syndrome Critical RegionGenomics, 1995
- Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndromeHuman Molecular Genetics, 1995
- Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinityHuman Molecular Genetics, 1995
- Mapping of the Tuple1 Gene to Mouse Chromosome 16A-B1Genomics, 1994
- Characterization of a novel murine testis-specific serine/threonine kinaseGene, 1994
- Molecular Cytogenetic Characterization of the DiGeorge Syndrome Region Using Fluorescence in Situ HybridizationGenomics, 1993
- Cardiovascular anomalies in digeorge syndrome and importance of neural crest as a possible pathogenetic factorThe American Journal of Cardiology, 1986