HGNC Approved Gene Symbol: YPEL1
Cytogenetic location: 22q11.21-q11.22 Genomic coordinates (GRCh38) : 22:21,697,536-21,735,794 (from NCBI)
Farlie et al. (2001) cloned mouse Ypel1 from an embryonic day-10.5 branchial arch cDNA library. The deduced 118-amino acid protein contains a putative nuclear localization signal and has a calculated molecular mass of about 13.5 kD. By database analysis, they identified human YPEL1, which encodes a deduced 119-amino acid protein that shares 99.2% identity with mouse Ypel1. YPEL1 is highly homologous to Yippee, a putative zinc-binding protein in Drosophila, and Farlie et al. (2001) also identified YPEL1 homologs in quail and several lower species. The human and quail YPEL1 proteins are identical. In situ hybridization of mouse embryos detected expression of Ypel1 in a number of ventral tissues, including branchial clefts and arches, which are associated with craniofacial morphogenesis, and heart. The dorsal embryo was completely free of transcript. Fluorescence-tagged mouse Ypel1 localized predominantly to the nuclei of human, rodent, and quail cells following transfection. Endogenous Ypel1 was detected within a proportion of mesenchymal cells in quail branchial arch outgrowth cultures, but not within ectodermal cells.
By analyzing genes on chromosome 22, followed by PCR and RACE of a fetal brain cDNA library, Hosono et al. (2004) cloned YPEL1. The human and monkey YPEL1 proteins are identical. YPEL1 shares 83.2 to 96.6% amino acid identity with YPEL2 (609723), YPEL3 (609724), and YPEL4 (609725). All YPEL proteins contain an 86-amino acid YPEL consensus sequence. Northern blot analysis detected a 4.4-kb YPEL1 transcript in fetal brain, with weaker expression in fetal lung and kidney. A 1.0-kb YPEL1 transcript was detected in adult testis. Immunofluorescent staining of COS-7 green monkey kidney cells localized Ypel1 to the centrosome and nucleolus during interphase and at several punctate structures around the mitotic apparatus during the mitotic phase.
Transfection of mouse Ypel1 into mouse fibroblasts resulted in confluent cultures with the cobblestone appearance characteristic of epithelial cells. Cells showed rearrangement of vimentin (193060), increased circumferential F-actin (see 102610), and increased expression of NCAM (116930).
Hosono et al. (2004) determined that the YPEL1 genes contain 5 exons and spans about 40 kb. Exon 1 is untranslated. The mouse Ypel1 gene has a similar structure.
By FISH and genomic sequence analysis, Farlie et al. (2001) mapped the YPEL1 gene to chromosome 22q11.2, a region associated with several congenital anomalies involving craniofacial malformation, including DiGeorge syndrome (188400) and velocardiofacial syndrome (192430). They mapped the mouse Ypel1 gene to chromosome 16 in a region that shows homology of synteny to human chromosome 22q11.
By genomic sequence analysis, Hosono et al. (2004) mapped the human YPEL1 gene to chromosome 22q11.2 and the mouse Ypel1 gene to chromosome 16B1. They identified an apparent processed YPEL pseudogene on chromosome 9p24.3 that shares similarity with YEPL1 through YEPL4.
Farlie, P., Reid, C., Wilcox, S., Peeters, J., Reed, G., Newgreen, D. Ypel1: a novel nuclear protein that induces an epithelial-like morphology in fibroblasts. Genes Cells 6: 619-629, 2001. [PubMed: 11473580] [Full Text: https://doi.org/10.1046/j.1365-2443.2001.00445.x]
Hosono, K., Sasaki, T., Minoshima, S., Shimizu, N. Identification and characterization of a novel gene family YPEL in a wide spectrum of eukaryotic species. Gene 340: 31-43, 2004. [PubMed: 15556292] [Full Text: https://doi.org/10.1016/j.gene.2004.06.014]