Disease:


  • OMIM ID: 600700 . 600700
  • OMIM diseaseName:
  • OMIM diseaseClinical_Synopsis:
  • OMIM diseaseText: Schoenmakers et al. (1995), in a note added in proof, described the isolation and sequencing of cDNA clones of the chromosome 3-derived lipoma-preferred partner gene LPP, which is involved in the translocation t(3;12) in benign lipomas. The 612-amino acid open reading frame of LPP showed approximately 85% similarity to zyxin of chicken. Zyxin (602002) is a member of the LIM protein family whose members all possess LIM domains. These domains are cysteine-rich, zinc-binding protein sequences found in transcription regulators, protooncogene products, and adhesive plaque constituents. Like zyxin, which is present at sites of cell adhesion to the extracellular matrix and other cells, the deduced LPP-encoded protein has 3 LIM domains and lacks classic DNA-binding homeodomains. The t(3;12) translocation in the benign lipomas resulted in the in-phase fusion of the DNA-binding molecules of HMGIC (600698) to the presumptive modular protein-binding interfaces of the LPP-encoded protein (Dal Cin et al., 1988). By partial cDNA cloning, Petit et al. (1996) established features of the genetic organization of LPP. The gene was found to span a genomic region of over 400 kb. Nucleotide sequence analysis of composite cDNA of LPP revealed an open reading frame of 1,836 nucleotides encoding a proline-rich polypeptide containing a leucine zipper motif in its N-terminal region and 3 LIM domains in its C-terminal region. Petit et al. (1996) commented that the LPP-encoded protein should be classified as a novel member of the group 3 proteins of the LIM protein gene family. Using RT-PCR analysis of lipoma cell lines and primary lipomas, they concluded that LPP is frequently rearranged in cases without a cytogenetically detectable involvement of 3q27-q28. Two alternative HMGIC/LPP hybrid transcripts were detected; the difference between them was mainly the presence of either 2 or 3 LIM domains in the predicted fusion proteins. By FISH and Southern blot analyses, Daheron et al. (2001) identified a rearrangement in the mixed lineage leukemia gene (MLL; 159555) due to a novel t(3;11)(q28;q23) translocation in a patient who developed acute myeloid leukemia of the M5 type 3 years after treatment for a follicular lymphoma. By means of inverse PCR, they identified the LPP gene on 3q28 as the MLL fusion partner. The breakpoint occurred in intron 8 of MLL and LPP. They found that the MLL/LPP and LPP/MLL predicted proteins contain many of the features present in other MLL rearrangements.
  • OMIM diseaseSee_Also:
  • OMIM diseaseAllelic_Variants:
  • OMIM diseaseCreation_Date: Victor A. McKusick: 7/31/1995
  • OMIM diseaseEdit_History_Data: carol: 12/26/2002 carol: 11/13/2001 mcapotos: 10/23/2001 terry: 10/9/2001 carol: 4/27/2000 alopez: 9/15/1997 terry: 9/12/1996 terry: 9/4/1996 mark: 4/26/1996 mimadm: 11/3/1995 mark: 7/31/1995
  • OMIM diseaseContributors: Victor A. McKusick - updated: 10/9/2001
  • OMIM diseaseReference: 1. Daheron, L.; Veinstein, A.; Brizard, F.; Drabkin, H.; Lacotte, L.; Guilhot, F.; Larsen, C. J.; Brizard, A.; Roche, J.: Human LPP gene is fused to MLL in a secondary acute leukemia with a t(3;11)(q28;q23). Genes Chromosomes Cancer 31: 382-389, 2001. 2. Dal Cin, P.; Turc-Carel, C.; Sandberg, A. A.: Consistent involvement of band 12q14 in two different translocations in three lipomas from the same patient. Cancer Genet. Cytogenet. 31: 237-240, 1988. 3. Petit, M. M. R.; Mols, R.; Schoenmakers, E. F. P. M.; Mandahl, N.; Van de Ven, W. J. M.: LPP, the preferred fusion partner gene of HMGIC in lipomas, is a novel member of the LIM protein gene family. Genomics 36: 118-129, 1996. 4. Schoenmakers, E. P. P. M.; Wanschura, S.; Mols, R.; Bullerdiek, J.; Van den Berghe, H.; Van de Ven, W. J. M.: Recurrent rearrangements in the high mobility group protein gene, HMGI-C, in benign mesenchymal tumours. Nature Genet. 10: 436-444, 1995.