Alternative titles; symbols
HGNC Approved Gene Symbol: ZKSCAN1
Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38) : 7:100,015,596-100,045,374 (from NCBI)
The ZKSCAN1 gene encodes a transcriptional regulator of the KRAB (Kruppel-associated box) subfamily of zinc finger proteins, which contain repeated Cys2-His2 (C2H2) zinc finger domains that are connected by conserved sequences, called H/C links. Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation (summary by Tommerup and Vissing, 1995). See ZNF91 (603971) for general information on zinc finger proteins.
By screening a human insulinoma cDNA library with a degenerate oligonucleotide corresponding to the H/C linker sequence, Tommerup et al. (1993) isolated cDNAs potentially encoding zinc finger proteins. Tommerup and Vissing (1995) performed sequence analysis on a number of these cDNAs and identified several novel zinc finger protein genes, including ZNF36, which they called ZNF139. The ZNF139 cDNA predicts a protein belonging to the Kruppel family of zinc finger proteins.
By sequence and computational analyses, Salzman et al. (2012) identified hundreds of transcripts that showed noncanonical ordering of exons in pediatric acute lymphoblastic leukemia samples and normal human leukocytes. The most abundant transcripts with scrambled exons originated from the FBXW4 (608071), CAMSAP1 (613774), and ZKSCAN1 genes. RT-PCR of human cells confirmed the findings. Transcripts with scrambled exons appeared to be circular, as they showed lack of polyadenylation and resistance to 5-prime exoribonuclease activity.
By isotopic in situ hybridization, Rousseau-Merck et al. (1995) mapped the ZKSCAN1 gene, which they called KOX18, to 7q21-q22. From pulsed field gel electrophoresis studies, they showed that KOX18 is within less than 250 kb of KOX25 (ZNF38; 601261). Rousseau-Merck et al. (1995) tabulated 18 different KOX genes that had been located in pairs within 9 DNA fragments of 200 to 580 kb on 7 different chromosomes. By FISH, Tommerup and Vissing (1995) mapped the ZKSCAN1 gene to 7q21.3-q22.1.
Rousseau-Merck, M.-F., Duro, D., Berger, R., Thiesen, H. J. Chromosomal localization of two KOX zinc finger genes on chromosome bands 7q21-q22. Ann. Genet. 38: 81-84, 1995. [PubMed: 7486829]
Salzman, J., Gawad, C., Wang, P. L., Lacayo, N., Brown, P. O. Circular RNAs are the predominant transcript isoform from hundreds of human genes in diverse cell types. PLoS One 7: e30733, 2012. Note: Electronic Article. [PubMed: 22319583] [Full Text: https://doi.org/10.1371/journal.pone.0030733]
Tommerup, N., Aagaard, L., Lund, C. L., Boel, E., Baxendale, S., Bates, G. P., Lehrach, H., Vissing, H. A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome. Hum. Molec. Genet. 2: 1571-1575, 1993. [PubMed: 8268908] [Full Text: https://doi.org/10.1093/hmg/2.10.1571]
Tommerup, N., Vissing, H. Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders. Genomics 27: 259-264, 1995. [PubMed: 7557990] [Full Text: https://doi.org/10.1006/geno.1995.1040]