Assignment of human pepsinogen C (PGC) gene to chromosome 6

cDNA of rat pepsinogen C (PGC) hybridizes to, among others, a 3.2-kb band in Southern blot analysis of BamHI-cleaved human genomic DNA. This property was employed to localize the human PGC gene. Use of flow-sorted human chromosomes and 12 human x mouse somatic cell hybrid lines demonstrated that the gene is located on chromosome 6.     

Assignment of the human 3 beta-hydroxysteroid dehydrogenase gene (HSDB3) to the p13 band of chromosome 1

Three-beta-hydroxysteroid dehydrogenase (HSDB3) is the enzyme which catalyses the oxidative conversion of delta 5-3 beta-hydroxy steroids to the delta 4-3-keto configuration and is therefore involved in the biosynthesis of all classes of hormonal steroids, namely progesterone, glucocorticoids, mineralocorticoids, androgens, and estrogens. Deficiency of the enzyme is associated with congenital adrenal hyperplasia and is usually lethal in early life. Despite its crucial role, chromosome assignment of the gene for this enzyme has not been reported. Using in situ hybridization, we report that hybridization with labeled human HSDB3-specific cDNA yielded 27% of silver grains associated with chromosome 1 with a maximal concentration in the p13 band.     

Assignment of the human aminopeptidase N (peptidase E) gene to chromosome 15q13-qter

The gene for aminopeptidase N (EC 3.4.11.2) has been located on the human chromosome 15q13-qter using HindIII-cleaved DNA from a panel of hybrids between rodent and human cells. The Southern blots were probed by the 5'-EcoRI fragment of the recently cloned human aminopeptidase N cDNA.     

Assignment of the human homologue of the mouse t-complex gene TCTE3 to human chromosome 6q27.

The gene TCTE3 from the mouse t-complex region is expressed specifically in testicular germ cells. It maps in the central subregion of the t-complex on mouse chromosome 17 containing loci involved in transmission ratio distortion and male sterility. In this study, somatic cell hybrid lines have been used to map the human homologue, TCTE3, to the long arm of chromosome 6. CISS hybridization with the human lambda clone h117 refined this chromosome assignment to the very distal position of chromosome 6q27, thus providing further evidence that loci from the t-complex of mouse chromosome 17 can map to opposite arms of human chromosome 6.     

Assignment of the human stromelysin 3 (STMY3) gene to the q11.2 region of chromosome 22.

The human stromelysin 3 (STMY3) gene, a new member of the matrix metalloproteinase (MMP) gene family, may contribute to breast cancer cell invasion, and has been localized by in situ hybridization to the long arm of chromosome 22. As demonstrated using a panel of somatic cell hybrids, the STMY3 gene is in band 22q11.2, in close proximity to the BCR gene involved in chronic myeloid leukemia, but far from the (11;22) translocation breakpoint observed in Ewing sarcoma. This position differs from that reported on chromosomes 11 and 16 for the other MMP genes, suggesting that stromelysin 3 could be a member of a new MMP subfamily.     

Assignment of the gene locus for human phosphoglucomutase 3 to chromosome 6q12-qter

Segregation of human PGM3 has been analyzed in somatic cell hybrids between mouse A9 cells and human fibroblasts carrying a reciprocal translocation: 46,XX, t(6;7) (q12;p14). The enzyme marker segregates with the 7p+ chromosome indicating that the PGM3 gene is located on 6q12 greater than qter.     

Assignment of the human gene for histidine-rich glycoprotein to chromosome 3

Histidine-rich glycoprotein (HRG) is a monomeric plasma glycoprotein involved in the modulation of coagulation and fibrinolysis. Using Southern analysis of human-rodent somatic cell hybrid DNA with a human HRG-specific cDNA probe, the HRG gene was assigned to chromosome 3. One hybrid that was known to contain only a segment of chromosome 3 also reacted positively with the HRG probe. Hybridization analysis with a set of chromosome 3-specific probes showed that the segment of chromosome 3 present in this hybrid is missing the region pter-p14, which indicates that HRG is not located in this region. No restriction fragment length polymorphisms were detected for HRG with 10 commonly used restriction enzymes.     

Assignment of the glyoxalase II gene (HAGH) to human chromosome 16

Summary The human and rodent forms of glyoxalase II (hydroxyacylglutathione hydrolase, HAGH) can readily be separated by starch gel electrophoretic procedures. Fifty-one human-rodent somatic cell hybrid clones were examined for their human HAGH and for human enzyme markers whose genes are encoced on each autosome and the X chromosome. Sixteen clones were also examined for their human karyotypes. Human glyoxalase II segregated only with chromosome 16, demonstrating that the gene is located on this chromosome.     

Assignment of the human urokinase receptor gene (PLAUR) to 19q13.

Through in situ hybridization of a cDNA probe to metaphase chromosomes, we localized the gene for the human urokinase receptor (PLAUR) on chromosome 19. RBG-banding permitted subchromosomal localization of the PLAUR gene to 19q13.     

Assignment of the human pancreatic colipase gene to chromosome 6p21.1 to pter

Pancreatic colipase is a 12-kDa polypeptide cofactor for pancreatic lipase (EC 3.1.1.3), an enzyme essential for the absorption of dietary long-chain triglyceride fatty acids. Colipase is thought to anchor lipase noncovalently to the surface of lipid micelles, counteracting the destabilizing influence of intestinal bile salts. Using primers derived from the known amino acid sequence, we have used the polymerase chain reaction to produce a cDNA clone corresponding to the complete coding region of the human procolipase mRNA. Southern blot analysis of genomic DNA from a panel of mouse-human somatic cell hybrids indicated that the colipase gene (CLPS) resides on human chromosome 6. Further analysis of somatic cell hybrids carrying chromosome 6 translocations permitted regional localization of CLPS to the 6p21.1-pter region.     

Assignment of the human CD9 gene to chromosome 12 (region P13) by use of human specific DNA probes

Summary We have used human specific DNA probes and somatic hybrid cell analysis to localize the human CD 9 gene to chromosome 12 (region p13).     

Assignment of a novel protein tyrosine phosphatase gene (Hcph) to mouse chromosome 6.

Hematopoietic cell phosphatase (Hcph) was identified by amplification of conserved protein tyrosine phosphatase sequences from a myeloid cell line and is predominantly expressed in hematopoietic cells. Hcph is unique in containing two, tandemly repeated, src-homology 2 domains in the amino terminal region of the phosphatase. Using a genomic probe in interspecific backcross analysis, the murine Hcph gene maps to mouse Chromosome 6 and is tightly linked to the Tnfr-2 and Ly-4 genes.     

Assignment of the human connexin 32 gene (GJB1) to band Xq13.

The chromosomal localization of the human gene coding for connexin 32 (GJB1) was determined by in situ suppression hybridization (ISSH). The results allowed assignment of the gene to band Xq13, thus refining previous localization data obtained by means of somatic cell hybrid analysis.     

Assignment of the pepsinogen gene complex (PGA) to human chromosome region 11q13 by in situ hybridization

The genes coding for human pepsinogen (PGA3, PGA4, and PGA5) were assigned to chromosome region 11q13 by in situ hybridization. Previously we localized the PGA gene complex to a centromeric region of chromosome 11 (p11----q13) by Southern blot analysis of mouse-human somatic cell hybrids. Our in situ hybridization results confirm this assignment and further localize the genes to a smaller region on the long arm.