HGNC Approved Gene Symbol: PREB
Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38) : 2:27,130,756-27,134,636 (from NCBI)
Fliss et al. (1999) isolated a rat cDNA encoding Preb, a WD motif DNA-binding protein with the capacity to regulate prolactin (PRL; 176760) promoter activity. Northern blot analysis of human tissues using a rat Preb cDNA probe showed expression of a 2.2-kb transcript in heart, brain, placenta, liver, skeletal muscle, kidney, and pancreas; a 1.9-kb transcript in brain, placenta, and lung; and a 1.5-kb transcript heart, skeletal muscle, and pancreas.
By screening a fetal brain cDNA library with a rat Preb probe, followed by 5-prime primer walking, Taylor Clelland et al. (2000) isolated a cDNA encoding human PREB. The deduced 417-amino acid protein, which is 89% identical to the rat protein, has 3 conserved WD repeats and 2 conserved pro-gln-rich regions. RNA dot blot analysis detected variable expression of PREB in all adult and fetal tissues. They proposed that PREB is a DNA-binding factor during mammalian development and that abnormal dosage may play a role in some of the phenotypic abnormalities observed in the partial trisomy 2p syndrome, which is characterized by a number of congenital defects, including genital abnormalities.
By genomic sequence analysis, Taylor Clelland et al. (2000) determined that the PREB gene contains 9 exons and spans 3.7 kb.
Edgar (2003) determined that the 3-prime UTR of the ABHD1 gene (612195) overlaps with the 3-prime UTR of the PREB gene in an antisense manner. The 42-bp overlap includes a short CpG island and a polyadenylation signal that is utilized by both genes. There is also a classical polyadenylation signal within introns 8 and 6 of the PREB gene that could be utilized by longer ABHD1 transcripts.
Using FISH, Taylor Clelland et al. (2000) mapped the PREB gene to 2p23, a region associated with the partial trisomy 2p syndrome. They noted that the mouse gene is localized to chromosome 5.
Edgar, A. J. The gene structure and expression of human ABHD1: overlapping polyadenylation signal sequence with Sec12. BMC Genomics 4: 18, 2003. Note: Electronic Article. [PubMed: 12735795] [Full Text: https://doi.org/10.1186/1471-2164-4-18]
Fliss, M. S., Hinkle, P. M., Bancroft, C. Expression cloning and characterization of PREB (prolactin regulatory element binding), a novel WD motif DNA-binding protein with a capacity to regulate prolactin promoter activity. Molec. Endocr. 13: 644-657, 1999. [PubMed: 10194769] [Full Text: https://doi.org/10.1210/mend.13.4.0260]
Taylor Clelland, C. L., Levy, B., McKie, J. M., Duncan, A. M. V., Hirschhorn, K., Bancroft, C. Cloning and characterization of human PREB; a gene that maps to a genomic region associated with trisomy 2p syndrome. Mammalian Genome 11: 675-681, 2000. [PubMed: 10920239] [Full Text: https://doi.org/10.1007/s003350010142]