| First Author | Koyama K | Year | 1996 |
| Journal | Cytogenet Cell Genet | Volume | 72 |
| Issue | 1 | Pages | 78-82 |
| PubMed ID | 8565641 | Mgi Jnum | J:30892 |
| Mgi Id | MGI:78468 | Doi | 10.1159/000134167 |
| Citation | Koyama K, et al. (1996) The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2. Cytogenet Cell Genet 72(1):78-82 |
| abstractText | We have isolated and characterized the human homologue of the murine Llglh gene, which was originally isolated as a homologue of a Drosophila tumor suppressor gene 1(2)gl (lethal(2) giant larvae). In the mouse, Llglh is thought to play an important role during brain development as a regulatory target of Hoxc8. The human homologue of Llglh (LLGL) encodes a protein consisting of 1,033 amino acids. This gene was mapped by fluorescence in situ hybridization (FISH) to human chromosome 17p11.2, a region that is typically deleted in patients with Smith-Magenis syndrome (SMS). In our FISH analysis of metaphase chromosomes of four SMS patients, a probe representing LLGL failed in each case to hybridize to one of the two chromosome 17 homologues, indicating that this gene may play a role in the pathogenesis of SMS. |
