==================================BSR55================================== 55. Show the sequences for genes that have been mapped to the short arm of human chromosome 11. 1 UI - 87000544 AU - Bock SC ; Skriver K ; Nielsen E ; Th:gersen HC ; Wiman B ; Donaldson VH ; Eddy RL ; Marrinan J ; Radziejewska E ; Huber R ; et al TI - Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization. AB - The primary structure of human C1 inhibitor was determined by peptide and DNA sequencing. The single-chain polypeptide moiety of the intact inhibitor is 478 residues (52,869 Da), accounting for only 51% of the apparent molecular mass of the circulating protein (104,000 Da). The positions of six glucosamine-based and five galactosamine-based oligosaccharides were determined. Another nine threonine residues are probably also glycosylated. Most of the carbohydrate prosthetic groups (probably 17) are located at the amino-terminal end (residues 1-120) of the protein and are particularly concentrated in a region where the tetrapeptide sequence Glx-Pro-Thr-Thr, and variants thereof, is repeated 7 times. No phosphate was detected in C1 inhibitor. Two disulfide bridges connect cysteine-101 to cysteine-406 and cysteine-108 to cysteine-183. Comparison of the amino acid and cDNA sequences indicates that secretion is mediated by a 22-residue signal peptide and that further proteolytic processing does not occur. C1 inhibitor is a member of the large serine protease inhibitor (serpin) gene family. The homology concerns residues 120 through the C-terminus. The sequence was compared with those of nine other serpins, and conserved and nonconserved regions correlated with elements in the tertiary structure of alpha 1-antitrypsin. The C1 inhibitor gene maps to chromosome 11, p11.2-q13. C1 inhibitor genes of patients from four hereditary angioneurotic edema kindreds do not have obvious deletions or rearrangements in the C1 inhibitor locus. A HgiAI DNA polymorphism, identified following the observation of sequence variants, will be useful as a linkage marker in studies of mutant C1 inhibitor genes. MH - Amino Acid Sequence ; Base Sequence ; Carbohydrates/ANALYSIS ; Chromosome Mapping ; *Chromosomes, Human, 6-12 ; *Cloning, Molecular ; Complement 1 Inactivators/*GENETICS/ISOLATION & PURIFICATION ; DNA/*METABOLISM ; *Genes, Structural ; Human ; Hybrid Cells/CYTOLOGY ; Models, Molecular ; Nucleic Acid Hybridization ; Polymorphism (Genetics) ; Protein Conformation ; Support, Non-U.S. Gov't ; Support, U.S. Gov't, P.H.S. SO - Biochemistry 1986 Jul 29;25(15):4292-301 2 UI - 86273465 AU - Winqvist R ; M:akel:a TP ; Sepp:anen P ; J:anne OA ; Alhonen-Hongisto L ; J:anne J ; Grzeschik KH ; Alitalo K TI - Human ornithine decarboxylase sequences map to chromosome regions 2pter----p23 and 7cen----qter but are not coamplified with the NMYC oncogene. AB - Using a mouse cDNA probe for ornithine decarboxylase (ODC), we have identified and isolated an ODC cDNA clone from a lambda gt11 recombinant library prepared from human liver cell mRNA. The 2.0-kb insert of this clone hybridizes with several mouse genomic ODC DNA restriction fragments under conditions of low stringency, but reacts with only few human DNA fragments and a polyA+ RNA species of 2.2 kb under both nonstringent and stringent hybridization conditions. This suggests that, unlike the mouse genome, there are only few ODC genes in the human genome. The human ODC DNA fragments segregate with chromosome regions 2pter----p23 and 7cen----qter in mouse X human somatic cell hybrid clones containing normal, translocated, and deleted human chromosomes. Sequences of the short arm of chromosome 2 containing the NMYC oncogene at 2p23----p24 are often involved in DNA amplification in neuroblastomas and small-cell lung cancers. However, in at least three cases--one neuroblastoma cell line, one neuroblastoma tumor, and one lung carcinoma--the ODC sequences are not coamplified with the NMYC oncogene. MH - Animal ; Base Sequence ; *Chromosome Mapping ; *Chromosomes, Human, 1-3 ; *Chromosomes, Human, 6-12 ; DNA/GENETICS ; DNA, Neoplasm/GENETICS ; *Gene Amplification ; Human ; Hybrid Cells ; Mice ; Neuroblastoma/FAMILIAL & GENETIC ; Nucleic Acid Hybridization ; *Oncogenes ; Ornithine Decarboxylase/*GENETICS ; Support, Non-U.S. Gov't SO - Cytogenet Cell Genet 1986;42(3):133-40 3 UI - 86205856 AU - Davis AE 3d ; Whitehead AS ; Harrison RA ; Dauphinais A ; Bruns GA ; Cicardi M ; Rosen FS TI - Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11. AB - C1 inhibitor is a heavily glycosylated plasma protein that regulates the activity of the first component of complement (C1) by inactivation of the serine protease subcomponents, C1r and C1s. C1 inhibitor cDNA clones have been isolated, and one of these (pC1INH1, 950 base pairs) has been partially sequenced. Sequence analysis demonstrates that the C1 inhibitor is a member of the serpin "superfamily: of protease inhibitors. In the region sequenced, C1 inhibitor has 22% identity with antithrombin III, 26% with alpha 1-antitrypsin and alpha 1-antichymotrypsin, and 18% with human angiotensinogen. C1 inhibitor has a larger amino-terminal extension than do the other plasma protease inhibitors. In addition, inspection of residues that are invariant among the other protease inhibitors shows that C1 inhibitor differs at 14 of 41 of these positions. Thus, it appears that C1 inhibitor diverged from the group relatively early in evolution, although probably after the divergence of angiotensinogen. Southern blot analysis of BamHI-digested DNA from normal individuals and from rodent-human somatic cell hybrid cell lines (that contain a limited but varied human chromosome complement) was used to localize the human C1 inhibitor gene to chromosome 11. MH - Amino Acid Sequence ; Chromosome Mapping ; *Chromosomes, Human, 6-12 ; Cloning, Molecular ; Comparative Study ; Complement 1 Inactivators/ *GENETICS ; DNA/GENETICS ; Human ; Protease Inhibitors/GENETICS ; RNA, Messenger/GENETICS ; Sequence Homology, Nucleic Acid ; Support, Non-U.S. Gov't ; Support, U.S. Gov't, P.H.S. SO - Proc Natl Acad Sci USA 1986 May;83(10):3161-5 4 UI - 86191318 AU - Kemper B TI - Molecular biology of parathyroid hormone. AB - The entire biosynthetic pathway of PTH has been elucidated from the determination of the chromosomal location to the eventual secretion of the hormone from the cell. The human gene is present on the short arm of chromosome 11, and restriction site polymorphisms near the gene have been detected. The PTH genes and cDNAs have been isolated and characterized in the bovine, human, and rat species. The gene contains two introns, which are in the same position in each species, and dissect the gene into 3 exons that code, respectively, for the 5' untranslated region, the signal peptide, and PTH plus the 3' untranslated region. The mRNAs are about twice as long as necessary to code for preProPTH and contain a 7-methylquanosine cap at the 5' terminus and polyadenylic acid at the 3' terminus. The 5' termini of the bovine and human mRNAs are heterogeneous at the 5' terminus, the basis of which is two TATA sequences in the 5' flanking regions of the gene. In contrast, the rat gene contains a single TATA sequence and the mRNA has a single 5' terminus. The initial translational product of the mRNA is preProPTH, and the pre-peptide of 25 amino acids is equivalent to signal peptides of other secreted and membrane proteins. The genes of the three species are very homologous in the region that codes for preProPTH. Substantial homology is also retained in the gene flanking regions, introns, and mRNA untranslated regions. Silent sites are also conserved more than would be expected, particularly between the human and bovine sequences. The bovine and human sequences are more closely related than the rat is to either the human or bovine. These studies of the basic molecular biology of PTH will provide the framework for future analysis of significant biological and medical questions. In vitro mutagenesis techniques should soon provide information about the elements of the gene involved in regulating transcription and about functional elements of the signal peptide. Eventually, signals involved in directing the ProPTH molecule to secretory granules as well as the biologically active regions of PTH, itself, will be examined by these methods. The molecular biological studies, combined with the development of dispersed cell cultures, provide the opportunity to study the effects of chronic changes in calcium on gene transcription and mRNA metabolism. The restriction site polymorphisms associated with the human PTH gene will allow a search for correlations between PTH gene structure and parathyroid disease.(ABSTRACT TRUNCATED AT 400 WORDS) RF - REVIEW ARTICLE: 93 REFS. MH - Amino Acid Sequence ; Animal ; Cattle ; Chromosome Mapping ; Chromosomes, Human, 6-12 ; Cloning, Molecular ; DNA/GENETICS ; Genes ; Human ; Parathyroid Hormones/*BIOSYNTHESIS/GENETICS/METABOLISM ; Protein Conformation ; Protein Precursors/METABOLISM ; Rats ; Review ; RNA, Messenger/GENETICS ; Sequence Homology, Nucleic Acid ; Species Specificity ; Structure-Activity Relationship ; Support, U.S. Gov't, P.H.S. SO - CRC Crit Rev Biochem 1986;19(4):353-79 5 UI - 86140715 AU - Takeuchi T ; Gumucio DL ; Yamada T ; Meisler MH ; Minth CD ; Dixon JE ; Eddy RE ; Shows TB TI - Genes encoding pancreatic polypeptide and neuropeptide Y are on human chromosomes 17 and 7. AB - Pancreatic polypeptide and neuropeptide Y share 50% amino acid homology (18 out of 36 residues), suggesting that they may have common ancestral origins. cDNA clones complementary to human mRNAs encoding pancreatic polypeptide and neuropeptide Y were used to detect specific human genomic DNA sequences in human-mouse somatic cell hybrid lines. The pancreatic polypeptide gene (PPY) segregated with human chromosome 17, while the neuropeptide Y gene (NPY) segregated with human chromosome 7. Examination of cell hybrids with chromosomal rearrangements assigned PPY to the p11.1-qter region and NPY to the pter-q22 region of their respective chromosomes. MH - Amino Acid Sequence ; Base Sequence ; Chromosome Mapping ; *Chromosomes, Human, 16-18 ; *Chromosomes, Human, 6-12 ; Comparative Study ; Genes, Structural ; Human ; Nerve Tissue Proteins/*GENETICS ; Nucleic Acid Hybridization ; Pancreatic Polypeptide/*GENETICS ; Protein Precursors/ GENETICS ; Support, U.S. Gov't, P.H.S. SO - J Clin Invest 1986 Mar;77(3):1038-41 6 UI - 86140378 AU - Nguyen C ; Mattei MG ; Mattei JF ; Santoni MJ ; Goridis C ; Jordan BR TI - Localization of the human NCAM gene to band q23 of chromosome 11: the third gene coding for a cell interaction molecule mapped to the distal portion of the long arm of chromosome 11. AB - cDNA clones containing sequences coding for the murine neural cell adhesion molecule (N-CAM) were used in Southern hybridizations on human genomic DNA and demonstrated approximately 90% homology between human and murine NCAM genes. In situ hybridization with one of these clones was performed on human metaphase chromosomes and allowed the localization of the human NCAM gene to band q23 of chromosome 11. The genes for two other cell surface molecules believed to be involved in cell-cell interactions, Thy-1 and the delta chain of the T3-T cell receptor complex, have recently been localized to the same region of chromosome 11 in man. Moreover, this region of the human chromosome 11 appears to be syntenic to a region of murine chromosome 9 that also contains the staggerer locus: staggerer mice show abnormal neurological features which may be related to abnormalities in the conversion of the embryonic to the adult forms of the N-CAM molecule. MH - Animal ; Antigens, Surface/*GENETICS ; Chromosome Mapping ; Chromosomes, Human, 6-12/*ULTRASTRUCTURE ; DNA/GENETICS ; Genes, Structural ; Human ; Mice ; Nucleic Acid Hybridization ; Receptors, Antigen, T-Cell/GENETICS ; Sequence Homology, Nucleic Acid ; Support, Non-U.S. Gov't SO - J Cell Biol 1986 Mar;102(3):711-5 7 UI - 86108862 AU - de Pagter-Holthuizen P ; van Schaik FM ; Verduijn GM ; van Ommen GJ ; Bouma BN ; Jansen M ; Sussenbach JS TI - Organization of the human genes for insulin-like growth factors I and II. AB - Recently, we have reported the isolation of cDNAs encoding the precursors of insulin-like growth factors I and II (IGF-I and II) [(1983) Nature 306, 609-611; (1985) FEBS Lett. 179, 243-246. These cDNAs were employed as specific probes to detect and isolate the corresponding genes from human cosmid DNA libraries. Three cosmids were detected, together containing the entire cDNA sequence of IGF-I, and one cosmid containing the sequence of IGF-II cDNA. Southern blot hybridization, physical mapping and nucleotide sequence analysis of these cosmids revealed that the IGF-I and -II genes have a discontinous structure. The IGF-I gene contains at least four exons spanning a region of probably more that 45 kilobasepairs (kb), while the IGF-II gene consists of at least five exons, spanning a region of 16 kb. MH - Amino Acid Sequence ; Base Sequence ; Chromosome Mapping ; *Chromosomes, Human, 6-12 ; DNA/GENETICS ; DNA Restriction Enzymes/DIAGNOSTIC USE ; Genes, Structural ; Human ; Insulin-Like Growth Factor I/*GENETICS ; Insulin-Like Growth Factor II/*GENETICS ; Somatomedins/*GENETICS SO - FEBS Lett 1986 Jan 20;195(1-2):179-84 8 UI - 86149385 AU - Watson DK ; McWilliams-Smith MJ ; Kozak C ; Reeves R ; Gearhart J ; Nunn MF ; Nash W ; Fowle JR 3d ; Duesberg P ; Papas TS ; et al TI - Conserved chromosomal positions of dual domains of the ets protooncogene in cats, mice, and humans. AB - The mammalian protooncogene homologue of the avian v-ets sequence from the E26 retrovirus consists of two sequentially distinct domains located on different chromosomes. Using somatic cell hybrid panels, we have mapped the mammalian homologue of the 5' v-ets-domain to chromosome 11 (ETS1) in man, to chromosome 9 (Ets-1) in mouse, and to chromosome D1 (ETS1) in the domestic cat. The mammalian homologue of the 3' v-ets domain was similarly mapped to human chromosome 21 (ETS2), to mouse chromosome 16 (Ets-2), and to feline chromosome C2 (ETS2). Both protooncogenes fell in syntenic groups of homologous linked loci that were conserved among the three species. The occurrence of two distinct functional protooncogenes and their conservation of linkage positions in the three mammalian orders indicate that these two genes have been separate since before the evolutionary divergence of mammals. MH - Animal ; Cats/*GENETICS ; Chromosome Mapping ; Chromosomes, Human, 6-12 ; Comparative Study ; Cricetulus ; Genes, Viral ; Genetic Marker ; Hamsters ; Human ; Hybrid Cells ; Mice/*GENETICS ; Oncogenes ; Phylogeny ; Proto-Oncogene Proteins, Cellular/*GENETICS ; *Proto-Oncogenes ; Retroviridae/GENETICS ; Retroviridae Proteins/GENETICS ; Sequence Homology, Nucleic Acid SO - Proc Natl Acad Sci USA 1986 Mar;83(6):1792-6