Genes (27)
Species:
human : 26 mouse : 1 | |
| Mouse | HMGA2 | 8091 | high mobility group AT-hook 2 | The HMGI-C/T mice showed a giant phenotype, together with a predominantly abdominal/pelvic lipomatosis, suggesting a pivotal role of the HMGI-C truncation in the generation of human lipomas. Similar truncations of murine Hmga2 in transgenic mice result in somatic overgrowth and, in particular, increased abundance of fat and lipomas, features strikingly similar to those observed in the child. | | Human | VANGL1 | 81839 | VANGL planar cell polarity protein 1 | Intradural/extradural lipoma | | Human | LHFP | 10186 | lipoma HMGIC fusion partner | Very recently, an HMGIC-LHFP (lipoma HMGIC fusion partner) fusion gene has been detected in a lipoma with a t(12;13). LHFP is the second translocation partner of HMGIC identified in lipomas and represents a candidate target gene for lipomas with 13q aberrations. LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a member of a new family of LHFP-like genes. In the context of an ongoing research program aiming at the elucidation of the functional consequences of HMGIC translocations in the etiology of lipomas, we have isolated a novel human gene, LHFP (lipoma HMGIC fusion partner), that acts as a translocation partner of HMGIC in a lipoma with t(12;13). In the lipoma studied, the expressed HMGIC/LHFP fusion transcript encodes the three DNA binding domains of HMGIC followed by 69 amino acids encoded by frame-shifted LHFP sequences. The LHFP gene was mapped to the long arm of chromosome 13, a region recurrently targeted by chromosomal aberrations in lipomas. | | Human | HMGA2 | 8091 | high mobility group AT-hook 2 | Click here to display 91 evidence detail records. | | Human | WNT1 | 7471 | wingless-type MMTV integration site family, member 1 | DNA from nine different solitary subcutaneous lipomas, all with clonal abnormalities affecting the chromosome segment 12q13-15, was examined for rearrangement or amplification of a human INT1 gene sequence. The INT1 oncogene is not rearranged or amplified in lipomas with structural chromosomal abnormalities of 12q13-15. | | Human | TRIP6 | 7205 | thyroid hormone receptor interactor 6 | The global molecular architecture and sequence of TRIP6 place it in the same family as the adhesion plaque protein, zyxin, and the lipoma preferred partner (LPP). The genomic organization of the ZRP-1 coding sequence is identical to that of the lipoma preferred partner gene, another Zyxin-related protein, suggesting that the two genes have evolved from a recent gene duplication event. Zyxin is the founding member of a family of proteins that also includes the lipoma preferred partner (LPP) and thyroid receptor-interacting protein 6 (TRIP6). | | Human | T | 6862 | T, brachyury homolog (mouse) | Intradural/extradural lipoma | | Human | CCL2 | 6347 | chemokine (C-C motif) ligand 2 | Intradural/extradural lipoma | | Human | PTEN | 5728 | phosphatase and tensin homolog | | | Human | PPYR1 | 5540 | | The expression of the three catalytic subunits of protein phosphatase (PP) type 1 and 2A, PP1 alpha, PP1 gamma 1, and PP2AC, was examined in 8 cases of lipoma as a benign tumor and 4 cases of liposarcoma as a malignant tumor using immunohistochemical analysis. | | Human | PPP2CA | 5515 | protein phosphatase 2, catalytic subunit, alpha isozyme | The expression of the three catalytic subunits of protein phosphatase (PP) type 1 and 2A, PP1 alpha, PP1 gamma 1, and PP2AC, was examined in 8 cases of lipoma as a benign tumor and 4 cases of liposarcoma as a malignant tumor using immunohistochemical analysis. | | Human | POU4F1 | 5457 | POU class 4 homeobox 1 | In this study, we have characterized a recurrent fusion of the first three exons of HMGA2 5; to the G protein-coupled receptor gene (RDC1) in lipomas with rearrangements involving chromosome bands 2q35-37 and 12q13-15, one of several recurrent chromosomal rearrangements in lipomas. Fusion of RDC1 with HMGA2 in lipomas as the result of chromosome aberrations involving 2q35-37 and 12q13-15. In four of seven cases there was a breakpoint within the sequence covered by probe 260J21, where the RDC1 gene is located, a gene reported to fuse with HMGIC in lipomas with a 2;12 translocation. | | Human | NFIB | 4781 | nuclear factor I/B | the rearrangement of NFIB might be associated with deep-seated lipomas, such as retroperitoneal or gastro-intestinal lipomas | | Human | NAB2 | 4665 | NGFI-A binding protein 2 (EGR1 binding protein 2) | The human NAB2 gene has been localized to chromosome 12ql3.3-14.1, a region that is rearranged in several solid tumors, lipomas, uterine leiomyomata, and liposarcomas. | | Human | TRNK | 4566 | tRNA | The G8363A mutation, which previously had been associated with cardiomyopathy and hearing loss, MERRF, and multiple lipomas, also should be included in the differential diagnosis of maternally inherited Leigh syndrome. Using SSCP and consequent DNA sequencing, we identified the known MERRF mutation in 4 out of 6 MERRF patients, as well as in 1 patient with a new clinical phenotype associated with this mutation: progressive external ophthalmoplegia, muscle weakness and a lipoma, but no myoclonus or epilepsy. Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas. High levels of mutated mtDNA, ultrastructurally abnormal mitochondria, and a clonal deletion on chromosome 6 are found in lipomas associated with MERRF. Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Our results confirm the high correlation between the A-->G transition at position 8344 and the MERRF syndrome, but they also show that this mutation can be associated with other phenotypes, including Leigh;s syndrome, myoclonus or myopathy with truncal lipomas, and proximal myopathy. | | Human | LTBP1 | 4052 | latent transforming growth factor beta binding protein 1 | Immunohistochemical study of chondrolipoma: possible importance of transforming growth factor (TGF)-betas, latent TGF-beta binding protein-1 (LTBP-1), and bone morphogenetic protein (BMP) for chondrogenesis in lipoma. | | Human | LRP1 | 4035 | low density lipoprotein receptor-related protein 1 | Putative apolipoprotein receptor gene (LRP, A2MR) is not rearranged in either myxoid liposarcoma or lipomas with translocations in 12q13-14. | | Human | LPP | 4026 | LIM domain containing preferred translocation partner in lipoma | Recently, we established that the genes HMGIC at 12q15 and LPP at 3q27-28 are affected by the 3;12-translocation and demonstrated that, as a direct result, HMGIC/LPP and LPP/HMGIC fusion transcripts are expressed in soft tissue lipomas. The lipoma preferred partner (LPP) gene is the most frequent translocation partner of HMGA2 in a subgroup of lipomas, which are benign tumors of adipose tissue. The LPP gene is the preferred translocation partner of the HMGIC gene in a subclass of human benign mesenchymal tumors known as lipomas. The t(3;12)(q27;q14-q15) fuses HMGIC with the LPP gene and has so far been described exclusively in lipomas. The lipoma preferred partner (LPP) gene is fused to the high mobility group protein gene HMGIC in lipomas and pulmonary chondroid hamartomas. A novel LPP fusion gene indicates the crucial role of truncated LPP proteins in lipomas and pulmonary chondroid hamartomas. Using reverse transcriptase combined with polymerase chain reactions in the analysis of a number of lipoma cell lines and primary lipomas, it appeared that LPP is frequently rearranged also in cases without a cytogenetically detectable involvement of 3q27-q28. LPP, the preferred fusion partner gene of HMGIC in lipomas, is a novel member of the LIM protein gene family. Finally, in a number of lipomas, HMGA2/LPP and HMGA2 are coexpressed, and HMGA2 augments the transactivation functions of HMGA2/LPP. Herein, a novel LPP fusion transcript of LPP in a lipoma is described that points to the possible oncogenic potential of LPP. Expression of reciprocal fusion transcripts of the HMGIC and LPP genes in parosteal lipoma. LPP contains substantial identity to the focal adhesion protein, zyxin, and is frequently fused to HMGIC in lipomas. In these lipomas, HMGA2/LPP fusion transcripts are expressed, which encode for the three AT-hooks of HMGA2 followed by the two most carboxyl-terminal LIM domains (protein-protein interaction domains) of LPP. RT-PCR analysis showed expression of HMGIC/LPP and LPP/HMGIC fusion transcripts in this parosteal lipoma; nucleotide sequence analysis revealed that these transcripts are identical to those expressed in soft tissue lipomas characterized by a 3;12-translocation. | | Human | LIPE | 3991 | lipase, hormone-sensitive | Lipoprotein lipase and hormone-sensitive lipase activities in human subcutaneous lipomas: comparison with normal subcutaneous adipose tissue. 3. Hormone-sensitive lipase activity was demonstrated in lipomas under basal conditions of assay as well as in the presence of adrenaline plus theophylline. 1. Lipoprotein lipase activity and hormone-sensitive lipase activity were investigated in subcutaneous lipomas removed from two patients and compared with the enzyme activities in subcutaneous adipose tissue from two normal subjects. | | Human | HMGA1 | 3159 | high mobility group AT-hook 1 | Rearrangements of HMGA1 and HMGA2 genes, consequent to chromosomal translocation, have been frequently detected in human benign tumours of mesenchymal origin including lipomas. A truncated HMGA1 gene induces proliferation of the 3T3-L1 pre-adipocytic cells: a model of human lipomas. FISH results revealed that the chromosomal breakpoints of 11 pulmonary chondroid hamartomas (PCHs), 12 endometrial polyps (EPs), one lipoma, and two uterine leiomyomas (ULs) were located within a 80 kb region surrounding the HMGIY gene. These results suggest a critical role played by HMGA1 rearrangements in the generation of human lipomas. | | Human | GLI1 | 2735 | GLI family zinc finger 1 | Pulsed-field analysis of myxoid liposarcoma and lipoma DNA has allowed us to construct a 600-kilobase physical map surrounding the GLI locus, which shows that breakpoints in both types of tumor are outside this region. | | Human | FUS | 2521 | fused in sarcoma | In myxoid liposarcomas the translocation t(12;16) creates a fusion gene between the CHOP gene and the FUS gene and in lipomas the HMGI-C gene becomes rearranged by structural aberrations involving chromosomal region 12q14-15. | | Human | E2F4 | 1874 | E2F transcription factor 4, p107/p130-binding | We report a 65-year-old man with triple tumors in the abdomen, including colon cancer, stomach cancer, and lipoma of the retroperitoneum, with the analysis of E2F-4 mutation. | | Human | DWS | 1858 | dandy-walker syndrome | Dandy-Walker syndrome associated with occipital meningocele and spinal lipoma--case report. A neonate presented with Dandy-Walker syndrome associated with occipital meningocele and spinal lipoma, manifesting as soft masses on the skull and lumbosacral regions. | | Human | CAV1 | 857 | caveolin 1, caveolae protein, 22kDa | Caveolin-1 was found to be expressed in fibromatoses, leiomyomas, hemangiomas, and lipomas at high levels comparable to normal mesenchymal tissues. |
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