PMID- 1358810 OWN - NLM STAT- MEDLINE DCOM- 19921217 LR - 20190902 IS - 0888-7543 (Print) IS - 0888-7543 (Linking) VI - 14 IP - 3 DP - 1992 Nov TI - Pax1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH). PG - 740-4 AB - Pax-1, a member of a murine multigene family, belongs to the paired box-containing class of developmental control genes first identified in Drosophila. The Pax-1 gene encodes a sequence-specific DNA-binding protein with transcriptional activating properties and has been found to be mutated in the autosomal recessive mutation undulated (un) on mouse chromosome 2 with vertebral anomalies along the entire rostrocaudal axis. By radioactive in situ hybridization (ISH) using a fragment from the murine Pax-1 paired box that is almost identical to the respective sequences from the cognate human gene HuP48 and fluorescence in situ hybridization (FISH) using a complete mouse Pax-1 cDNA, we have assigned the human homologue of murine Pax-1, the PAX1 locus, to chromosome 20p. The map position of PAX1 after FISH (FL-pter value of 0.34 +/- 0.04) corresponds to band p11.2. These results confirm the exceptional homology between human chromosome 20 and the distal segment of mouse chromosome 2, extending from bands F to G, and add PAX1 to the group of genes on 20p like PTPA, PRNP, SCG1, BMP2A, which are located in proximity on both chromosomes. FAU - Schnittger, S AU - Schnittger S AD - Institut fur Humangenetik, Universitat Gottingen, Germany. FAU - Rao, V V AU - Rao VV FAU - Deutsch, U AU - Deutsch U FAU - Gruss, P AU - Gruss P FAU - Balling, R AU - Balling R FAU - Hansmann, I AU - Hansmann I LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Genomics JT - Genomics JID - 8800135 RN - 0 (DNA-Binding Proteins) RN - 0 (Paired Box Transcription Factors) RN - 0 (Transcription Factors) RN - 142661-96-9 (PAX1 transcription factor) SB - IM MH - Animals MH - Chromosome Mapping MH - *Chromosomes, Human, Pair 20 MH - Cricetinae MH - DNA-Binding Proteins/*genetics MH - *Genes, Homeobox MH - Humans MH - Hybrid Cells MH - In Situ Hybridization MH - In Situ Hybridization, Fluorescence MH - Paired Box Transcription Factors MH - Transcription Factors/*genetics EDAT- 1992/11/01 00:00 MHDA- 1992/11/01 00:01 CRDT- 1992/11/01 00:00 PHST- 1992/11/01 00:00 [pubmed] PHST- 1992/11/01 00:01 [medline] PHST- 1992/11/01 00:00 [entrez] AID - 10.1016/s0888-7543(05)80177-6 [doi] PST - ppublish SO - Genomics. 1992 Nov;14(3):740-4. doi: 10.1016/s0888-7543(05)80177-6.