| First Author | Castellani LW | Year | 1998 |
| Journal | Nat Genet | Volume | 18 |
| Issue | 4 | Pages | 374-7 |
| PubMed ID | 9537422 | Mgi Jnum | J:47109 |
| Mgi Id | MGI:1202624 | Doi | 10.1038/ng0498-374 |
| Citation | Castellani LW, et al. (1998) Mapping a gene for combined hyperlipidaemia in a mutant mouse strain. Nat Genet 18(4):374-7 |
| abstractText | Familiar combined hyperlipidaemia (FCHL) is a common, multifactorial disorder associated with elevated levels of plasma triglyceride, cholesterol, or both(1-3). A characteristic feature is increased secretion of very low density lipoproteins (VLDL) and apolipoprotein B (apoB; refs 3,4). Although FCHL is the most common cause of premature coronary artery disease (CAD), accounting for over 10% of cases, its aetiology remains largely unknown(3- 6). One powerful approach to the dissection of complex genetic traits involves the use of animal models' We have identified a mouse strain, HcB-19/Dem (HcB-19), which exhibits hypertriglyceridaemia, hypercholesterolaemia and elevated levels of plasma apoB. Like FCHL patients, HcB-19 mice also exhibit increased secretion of triglyceride-rich lipoproteins, and their hyperlipidaemia becomes progressively more severe with age. It is likely that the hyperlipidaemia results from a mutation of a novel gene that arose during development of strain HcB-19. We mapped the hyperlipidaemia gene (Hyplip1) to the distal portion of mouse chromosome 3. This region is syntenic to human chromosome 1q21-q23, which has recently been shown to harbour a gene associated with FCHL in families from a Finnish isolate (see accompanying manuscript by Pajukanta et al., ref. 8). |
