Assignment of defensin gene(s) to human chromosome 8p23

A relatively abundant component of the polymorphonuclear leukocyte granulocytes has been recently isolated and called defensin. Defensins have antimicrobial activity against gram-positive and gram-negative bacteria and enveloped viruses. A cDNA insert for defensin HNP-1 (DEF1) has been used to map the gene(s) to human chromosome 8p23 using a mouse/human somatic cell hybrid panel and in situ hybridization to normal human metaphase chromosomes. Because of the similarity of HNP-1 defensin to other defensins, it is likely that two of these genes map to this region.     

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 gene for human sphingolipid activator protein-2 (SAP-2) to chromosome 10.

Sphingolipid activator protein-2 (SAP-2) has been found to stimulate the enzymatic hydrolysis of glucosylceramide, galactosylceramide, and sphingomyelin. When human skin fibroblast extracts were subjected to sodium dodecylsulfate-polyacrylamide gel electrophoresis followed by electroblotting and immunochemical staining using monospecific antibodies against SAP-2, two or three major bands with estimated mol. wts. of 9,000-10,000 were found. These antibodies did not crossreact with purified SAP-1, another activating protein, or with extracts of CHO-K1 cells. A series of 22 human/Chinese hamster ovary cell hybrids containing different human chromosomes were examined by this method. All eight hybrid clones containing human chromosome 10 were found to have crossreacting protein in this region. Other chromosomes could be excluded by this method. From these results, we conclude that the gene coding for human SAP-2 is located on chromosome 10.     

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 human pancreatic lipase gene (PNLIP) to chromosome 10q24-q26.

Human pancreatic lipase (EC 3.1.1.3) is a 56-kDa protein secreted by the acinar pancreas and is essential for the hydrolysis and absorption of long-chain triglyceride fatty acids in the intestine. In vivo, the 12-kDa protein cofactor, colipase, is required to anchor lipase to the surface of lipid micelles, counteracting the destabilizing influence of bile salts. Southern blot analysis, using a pancreatic lipase cDNA to probe DNA from mouse-human somatic cell hybrids, indicated that the pancreatic lipase gene (PNLIP) resides on human chromosome 10. In situ hybridization to human metaphase chromosomes confirmed the cell hybrid results and further localized the gene to the 10q24-qter region with the strongest peak at q26.1.     

Assignment of the human tissue-type plasminogen activator gene (PLAT) to chromosome 8

Summary Using 1.2kb 3-terminal Pst-I fragment of a full length tissue-type plasminogen activator (t-PA) cDNA clone (ptPA-8FL) and a set of rodent human somatic cell hybrids, the corresponding human gene PLAT was localized on chromosome 8.This work was submitted as an abstract entitled: Provisional assignment of human tissue-type plasminogen activator (PLAT) to chromosome 8, by R. Visse, G. T. G. Chang, J. Th. Wijnen, J. H. Verheijen, C. Kluft, and P. Meera Khan, for a poster presentation at the 8th International Conference on Human Gene Mapping, Helsinki, August 4–10, 1985     

Assignment of the erythropoietin receptor (EPOR) gene to mouse chromosome 9 and human chromosome 19

Erythropoietin (EPO), the primary regulator of mammalian erythropoiesis, binds and activates a specific receptor on erythroid progenitors. The human and mouse cDNAs for this receptor (EPOR) have recently been isolated. These cDNAs were used to establish the genomic location of the EPOR gene. By somatic cell hybrid analysis, the locus for the EPOR maps to human chromosome (Chr) 19pter-q12. By interspecific backcross mapping the locus is tightly linked to the murine Ldlr locus near the centromere of mouse Chr9. This region of mouse Chr9 is homologous to a region of human Chr 19p13 carrying the human LDLR and MEL loci, strongly suggesting that the human EPOR gene is at 19p13 near the human LDLR locus.     

Assignment of adenosine deaminase complexing protein (ADCP) gene(s) to human chromosome 2 in rodent-human somatic cell hybrids

Summary The experiments reported in this paper indicate that the expression of human adenosine deaminase complexing protein (ADCP) in the human-rodent somatic cell hybrids is influenced by the state of confluency of the cells and the background rodent genome. Thus, the complement of the L-cell derived A9 or B82 mouse parent apparently prevents the expression of human ADCP in the interspecific somatic cell hybrids. In the a3, E36, or RAG hybrids the human ADCP expression was not prevented by the rodent genome and was found to be proportional to the degree of confluency of the cell in the culture as in the case of primary human fibroblasts.An analysis of human chromosomes, chromosome specific enzyme markers, and ADCP in a panel of rodent-human somatic cell hybrids optimally maintained and harvested at full confluency has shown that the expression of human ADCP in the mouse (RAG)-human as well as in the hamster (E36 or a3)-human hybrids is determined by a gene(s) in human chromosome 2 and that neither chromosome 6 nor any other of the chromosomes of man carry any gene(s) involved in the formation of human ADCP at least in the Chinese hamster-human hybrids. A series of rodent-human hybrid clones exhibiting a mitotic separation of IDH1 and MDH1 indicated that ADCP is most probably situated between corresponding loci in human chromosome 2.A part of the results was presented at the Fifth International Conference on Human Gene Mapping, Edinburgh, July 1979 and reported as an abstract in the proceedings of this conference [Cytogenet Cell Genet 25:164 (1979)]     

Assignment of estradiol receptor gene to mouse chromosome 10

Differences in restriction fragment lengths were detected with murine estrogen receptor cDNA (clone MOR-100) between Chinese hamster and mouse. These were used to determine the chromosomal location of the estrogen receptor in the mouse by Southern blot analysis of DNAs obtained from a panel of mouse-Chinese hamster somatic cell hybrids. The mouse estrogen receptor gene was localized on mouse chromosome 10.     

Assignment of the human gene for beta-microseminoprotein (MSMB) to chromosome 10 and demonstration of related genes in other vertebrates.

The gene for beta-microseminoprotein MSMB has been studied by DNA hybridization and molecular cloning techniques. Comparative analysis of restriction endonuclease digests of the cloned gene and of leukocyte DNA strongly suggested that the gene is present in a single copy in the haploid human genome. By Southern blot analysis of DNA from somatic cell hybrids, the gene was assigned to chromosome 10. The coding nucleotides of the human gene are separated into four exons by relatively large introns. A related gene might be present in other mammals, birds, and amphibians as revealed by DNA hybridization under conditions of low stringency.     

Assignment of the alpha B-crystallin gene to human chromosome 11

Using a human alpha B-crystallin genomic probe and human-mouse somatic cell hybrids, the human alpha B-gene was assigned to chromosome 11 and further corroborated by in situ hybridization to normal metaphase chromosomes. This assignment confirmed and regionally mapped the locus to q22.3-23.1.     

Assignment of the human parathyroid hormone gene to chromosome 11

Summary A panel of human-mouse and human-Chinese hamster cell hybrid DNA's was screened for hybridisation with a fragment of the human parathyroid hormone chromosomal gene. A 7-kilobasepair Msp I restriction fragment homologous to this probe was found to segregate with the human chromosome 11.     

Assignment of the human tyrosine aminotransferase gene to chromosome 16

Summary The liver enzyme tyrosine aminotransferase (TAT; EC 2.6.1.5) catalyzes the rate-limiting step in the catabolic pathway of tyrosine. Deficiency in TAT enzyme activity underlies the autosomally inherited disorder tyrosinemia II (Richner-Hanhart syndrome). Using a human TAT cDNA clone as hybridization probe, we have determined the chromosomal location of the TAT structural gene by Southern blot analysis of DNAs from a series of human x rodent somatic cell hybrids. The results assign the TAT gene to human chromosome 16.     

Localization of the choline acetyltransferase (CHAT) gene to human chromosome 10

A cDNA clone encoding the complete sequence of porcine choline acetyltransferase (CHAT) isolated by S. Berrard et al. (1987, Proc. Natl. Acad. Sci. USA 84: 9280-9284) was hybridized to TaqI digests of a panel of 25 human-rodent somatic cell hybrids and to a complementary panel of 10 human-rodent hybrids in order to determine the chromosomal localization of human CHAT. To enhance the detection of the human signal, hybridization and washings were performed under low stringency conditions on membranes presaturated with sonicated DNA from parental rodent strains. All informative human fragments had the same distribution among the hybrids, mapping CHAT to a single human chromosome. CHAT was assigned to chromosome 10 because all other chromosomes were eliminated by exclusion based on the analysis of the signal segregation. This result indicates that mutation of the CHAT gene cannot be responsible for the primary defect in familial Alzheimer's disease.