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).

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.

[1]  J. Yunis,et al.  A high resolution in situ hybridization technique for the direct visualization of labeled G-banded early metaphase and prophase chromosomes. , 1978, Cytogenetics and cell genetics.

[2]  P. Gruss,et al.  The murine paired box gene, Pax7, is expressed specifically during the development of the nervous and muscular system , 1990, Mechanisms of Development.

[3]  E. Knapik,et al.  Spatially and temporally restricted expression of Pax2 during murine neurogenesis. , 1990, Development.

[4]  M. Goulding,et al.  The molecular basis of the undulated/Pax-1 mutation , 1991, Cell.

[5]  M. Dickinson,et al.  Chromosomal localization of seven members of the murine TGF-beta superfamily suggests close linkage to several morphogenetic mutant loci. , 1990, Genomics.

[6]  T. Mohandas,et al.  Assignment of the human and mouse prion protein genes to homologous chromosomes. , 1986, Proceedings of the National Academy of Sciences of the United States of America.

[7]  E. Passarge.  The Human Karyotype Analysis of Chromosomes in Mitosis and Evaluation of Cytogenetic Data , 1974 .

[8]  M. Noll,et al.  Conservation of the paired domain in metazoans and its structure in three isolated human genes. , 1989, The EMBO journal.

[9]  A. Duncan,et al.  The human protein-tyrosine phosphatase PTPα/LRP gene (PTPA) is assigned to chromosome 20p13 , 1992 .

[10]  W. Gehring,et al.  Homeo boxes in the study of development. , 1987, Science.

[11]  M. Akam.  Hox and HOM: Homologous gene clusters in insects and vertebrates , 1989, Cell.

[12]  G. Saunders,et al.  Mouse Small eye results from mutations in a paired-like homeobox-containing gene , 1991, Nature.

[13]  P Berg,et al.  Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. , 1977, Journal of molecular biology.

[14]  Sean B. Carroll,et al.  The segmentation and homeotic gene network in early Drosophila development , 1987, Cell.

[15]  K. Grzeschik,et al.  Characterization and regional mapping of new anonymous chromosome 20-specific DNA markers isolated from a flow-sorted DNA library. , 1991, Genomics.

[16]  E. Southern.  Detection of specific sequences among DNA fragments separated by gel electrophoresis. , 1975, Journal of molecular biology.

[17]  P. Gruss,et al.  Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system. , 1990, Development.

[18]  R. Balling,et al.  undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1 , 1988, Cell.

[19]  D. Simon,et al.  Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland. , 1990, Development.

[20]  Iscn.  International System for Human Cytogenetic Nomenclature , 1978 .

[21]  J. Burn,et al.  Alagille syndrome and deletion of 20p. , 1990, Journal of medical genetics.

[22]  H. Varmus,et al.  Identification of a human gene (HCK) that encodes a protein-tyrosine kinase and is expressed in hemopoietic cells , 1987, Molecular and cellular biology.

[23]  B. Eyskens,et al.  Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2) , 1990, American journal of medical genetics.

[24]  J. Sambrook,et al.  Molecular Cloning: A Laboratory Manual , 2001 .

[25]  N. Copeland,et al.  Assignment of secretogranin I locus to mouse chromosome 2 by in situ hybridization and interspecific backcross analysis. , 1991, Genomics.

[26]  P Gruss,et al.  Pax: a murine multigene family of paired box-containing genes. , 1991, Genomics.

[27]  M. E. Wright.  Undulated: A new genetic factor in mus musculus affecting the spine and tail , 1947, Heredity.

[28]  J. Schlessinger,et al.  The gene for receptor-linked protein-tyrosine-phosphatase (PTPA) is assigned to human chromosome 20p12-pter by in situ hybridization (ISH and FISH). , 1992, Genomics.

[29]  R. White,et al.  A highly polymorphic locus in human DNA. , 1980, Proceedings of the National Academy of Sciences of the United States of America.

[30]  N. Copeland,et al.  Interspecific backcross mice show sex-specific differences in allelic inheritance. , 1991, Genetics.

[31]  D. Simon,et al.  Murine genes with homology to Drosophila segmentation genes. , 1988 .

[32]  M. Goulding,et al.  Pax‐3, a novel murine DNA binding protein expressed during early neurogenesis. , 1991, The EMBO journal.

[33]  G. Thomas,et al.  Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome). , 1990, The Journal of pediatrics.

[34]  P. Gruss,et al.  Pax 1, a member of a paired box homologous murine gene family, is expressed in segmented structures during development , 1988, Cell.

[35]  M. Noll,et al.  Conservation of a large protein domain in the segmentation gene paired and in functionally related genes of Drosophila , 1986, Cell.

[36]  G Hermanson,et al.  High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. , 1990, Science.