Disease relevance of CER1

• A 1-Mb PAC contig spanning the common eliminated region 1 (CER1) in microcell hybrid-derived SCID tumors [1].
• CONCLUSIONS: FGFR1 (exon 7), CER1, and CDON are not related to trigonocephaly in our sample and should not be considered as causative genes for metopic synostosis [2].

High impact information on CER1

• However, very efficient down-regulation of the EGF receptor occurred in CER-1 cells [3].
• One variant isolated from Ca9-22 cells, CER-1, grew without being affected by EGF [3].
• The EGF receptors on both Ca9-22 and CER-1 cells were autophosphorylated upon EGF exposure in a similar manner suggesting no obvious alteration in receptor tyrosine kinase [3].
• We have found previously that during tumor growth intact human chromosome 3 transferred into tumor cells regularly looses certain 3p regions, among them the approximately 1.4-Mb common eliminated region 1 (CER1) at 3p21 [4].
• Surprisingly, we detected three regions that were lost in all or majority of tumors: CER1 (3p21.3, Mb: 43.32-45.74), CER2 (3p22, Mb: 37.83-39.06) and FER (3p14.3-p21.2, Mb: 50.12-58.03) [5].

Biological context of CER1

• 3. This segment, called chromosome 3 common eliminated region 1 (C3CER1, also referred to as CER1), may harbor multiple tumor-suppressor genes [6].
• Human cerberus related gene CER1 maps to chromosome 9 [7].
• Primate CER1 orthologs, playing a pivotal role during early embryogenesis, underwent protein evolution as well as promoter evolution [8].
• Because triple TCF/LEF-binding sites were identified within human CER1 promoter by using bioinformatics and human intelligence, comparative genomics analyses on CER1 orthologs were further performed [8].
• These facts indicate that molecular evolution of CER1 orthologs contributes to the significantly divergent scenarios of early embryogenesis in primates and rodents [8].

Anatomical context of CER1

• CER1 is a common target of WNT and NODAL signaling pathways in human embryonic stem cells [8].

Associations of CER1 with chemical compounds

• In the present study, small-angle X-ray diffraction was used to examine the organization in synthetic lipid mixtures of which the synthetic ceramide fraction was prepared with sphingosine-based CER1 or phytosphingosine-based CER9 [9].
• Only a mixture containing synthetic CER1 and CER3, CHOL and FFA showed similar phase behaviour to that of SC [10].
• The main lipid classes in SC are cholesterol (CHOL), free fatty acids (FFA) and at least nine classes of ceramides (CER), referred to as CER1 to CER9 [10].

Physical interactions of CER1

• Three TCF/LEF-binding sites within human CER1 promoter were conserved in chimpanzee CER1 promoter, two in cow and dog Cer1 promoters, but not in rodent Cer1 promoters [8].

Other interactions of CER1

• CER1 upregulation in human ES cells leads to Nodal signaling inhibition associated with differentiation of human ES cells [8].
• DESIGN: Using single-strand conformational polymorphisms (SSCPs), denaturing high-performance liquid chromatography, and/or direct sequencing, we analyzed a total of 81 patients for FGFR1 (exon 7), 70 for CER1, and 44 for CDON [2].
• Here, we identified two novel genes related to CKTSF1B1 and CER1 by using bioinformatics [11].

Analytical, diagnostic and therapeutic context of CER1

• 3. Fluorescence in situ hybridization analysis of 12 mouse orthologous loci revealed that CER1 splits into two segments in mouse and therefore contains a murine/human conservation breakpoint region (CBR) [4].

References