Unexpected relationships between four large deletions in the human β-globin gene cluster. (1983)
Vanin, E., Henthorn, P., Kioussis, D., Grosveld, F.G., Smithies, O.
Two independent gamma delta beta-thalassemias are each associated with large deletions. We show, by comparing DNA sequences, that the deletions are due to non-homologous DNA exchanges. The 5'...
Bozza, P T, Payne, J L, Morham, S G, Langenbach, R, Smithies, O, Weller, P F
Lipid bodies, cytoplasmic inclusions that develop in cells associated with inflammation, are inducible structures that might participate in generating inflammatory eicosanoids. Cis-unsaturated fatty...
Kirby, S L, Cook, D N, Walton, W, Smithies, O
The long-term efficacy of gene therapy using bone marrow transplantation requires the engraftment of genetically altered totipotent hematopoietic stem cells (THSCs). Ex vivo expansion of corrected...
Single-copy transgenic mice with chosen-site integration.
Bronson, S K, Plaehn, E G, Kluckman, K D, Hagaman, J R, Maeda, N, Smithies, O
We describe a general way of introducing transgenes into the mouse germ line for comparing different sequences without the complications of variation in copy number and insertion site. The method...
A mouse model for beta 0-thalassemia.
Yang, B, Kirby, S, Lewis, J, Detloff, P J, Maeda, N, Smithies, O
We have used a "plug and socket" targeting technique to generate a mouse model of beta 0-thalassemia in which both the b1 and b2 adult globin genes have been deleted. Mice homozygous for this...
Mice lacking inducible nitric oxide synthase are not resistant to lipopolysaccharide-induced death.
Laubach, V E, Shesely, E G, Smithies, O, Sherman, P A
Nitric oxide produced by cytokine-inducible nitric oxide synthase (iNOS) is thought to be important in the pathogenesis of septic shock. To further our understanding of the role of iNOS in normal...
Gene targeting approaches to complex genetic diseases: atherosclerosis and essential hypertension.
Gene targeting allows precise, predetermined changes to be made in a chosen gene in the mouse genome. To date, targeting has been used most often for generation of animals completely lacking the...
Bronson, S K, Smithies, O, Mascarello, J T
Injecting male embryonic stem cells into the blastocoel of female embryos occasionally produces female chimeras capable of transmitting the embryonic stem cell genome. In our experiments several...
Regulation of blood pressure by the type 1A angiotensin II receptor gene.
Ito, M, Oliverio, M I, Mannon, P J, Best, C F, Maeda, N, Smithies, O, ...
The renin-angiotensin system plays a critical role in sodium and fluid homeostasis. Genetic or acquired alterations in the expression of components of this system are strongly implicated in the...
Genetic control of blood pressure and the angiotensinogen locus.
Kim, H S, Krege, J H, Kluckman, K D, Hagaman, J R, Hodgin, J B, Best, C F, ...
Variants of the human angiotensinogen gene have been linked in some studies to increased circulating angiotensinogen levels and essential hypertension. To test for direct causality between genotypes...
Targeted gene duplication and disruption for analyzing quantitative genetic traits in mice.
Experimental analysis of complex quantitative genetic traits, such as essential hypertension, should be greatly facilitated by being able to manipulate the expression of a gene in living animals...
Lethal thalassemia after insertional disruption of the mouse major adult beta-globin gene.
Shehee, W R, Oliver, P, Smithies, O
Thalassemias are hereditary anemias caused by mutations that disturb the normal 1:1 balance of alpha- and beta-globin chains that form hemoglobin. We have disrupted the major adult beta-globin gene...
Lubahn, D B, Moyer, J S, Golding, T S, Couse, J F, Korach, K S, Smithies, O
Estrogen receptor and its ligand, estradiol, have long been thought to be essential for survival, fertility, and female sexual differentiation and development. Consistent with this proposed crucial...
Spriggs, M K, Koller, B H, Sato, T, Morrissey, P J, Fanslow, W C, Smithies, O, ...
Transgenic mice lacking an intact beta 2-microglobulin (beta 2m) gene fail to express major histocompatibility complex (MHC) class I proteins on the cell surface and, as a result, are virtually...
Correction of a human beta S-globin gene by gene targeting.
Shesely, E G, Kim, H S, Shehee, W R, Papayannopoulou, T, Smithies, O, Popovich, B W
As a step toward using gene targeting for gene therapy, we have corrected a human beta S-globin gene to the normal beta A allele by homologous recombination in the mouse-human hybrid cell line BSM....
A dominant positive and negative selectable gene for use in mammalian cells.
Schwartz, F, Maeda, N, Smithies, O, Hickey, R, Edelmann, W, Skoultchi, A, ...
We have constructed three different fusion genes containing the herpes simplex virus thymidine kinase (HSV tk) and the bacterial neomycin phosphotransferase (neo) genes. All three fusion genes...
Koller, B H, Kim, H S, Latour, A M, Brigman, K, Boucher, R C, Scambler, P, ...
A gene-targeting construct was made containing 7.8 kilobases of DNA spanning exon 10 of the mouse cystic fibrosis transmembrane regulator (CFTR) gene in which part of the exon has been replaced by...
Reid, L H, Gregg, R G, Smithies, O, Koller, B H
We have examined the expression of transfected human hypoxanthine phosphoribosyltransferase minigenes (HPRT) in mouse embryonic stem (ES) cells. cDNA constructs of this gene that have been...
Genetic contributions to generalized arousal of brain and behavior
Garey, J., Goodwillie, A., Frohlich, J., Morgan, M., Smithies, O., ...
We have identified a generalized arousal component in the behavior of mice. Analyzed by mathematical/statistical approaches across experiments, investigators, and mouse populations, it accounts for...
Targeted disruption of the mouse topoisomerase I gene by camptothecin selection.
Morham, S G, Kluckman, K D, Voulomanos, N, Smithies, O
Topoisomerase I has ubiquitous roles in important cellular functions such as replication, transcription, and recombination. In order to further characterize this enzyme in vivo, we have used gene...
Nandi, A K, Roginski, R S, Gregg, R G, Smithies, O, Skoultchi, A I
We have examined the effect of the site of integration on the expression of cloned genes introduced into cultured erythroid cells. Smithies et al. [Smithies, O., Gregg, R.G., Boggs, S.S., Koralewski,...
Targeted mutation of the Hprt gene in mouse embryonic stem cells.
Doetschman, T, Maeda, N, Smithies, O
The hypoxanthine-guanine phosphoribosyltransferase (Hprt) gene has been mutated in mouse blastocyst-derived embryonic stem cells by site-directed homologous recombination. Embryonic stem cells were...
Koller, B H, Hagemann, L J, Doetschman, T, Hagaman, J R, Huang, S, Williams, P J, ...
Embryonic stem cells (derived from 129/Ola mice) containing a mutant hypoxanthine phosphoribosyltransferase gene that had been corrected in vitro in a planned manner by homologous recombination were...
We have inactivated, by gene targeting, the endogenous beta 2-microglobulin gene in a mouse embryonic stem cell line. A cloned fragment of the beta 2-microglobulin gene with the coding sequence...
Accurate modification of a chromosomal plasmid by homologous recombination in human cells.
Song, K Y, Schwartz, F, Maeda, N, Smithies, O, Kucherlapati, R
We have examined the consequences of modifying mammalian cellular DNA sequences by homologous recombination. A plasmid carrying a 248-base-pair deletion in the neomycin phosphotransferase (neo) gene...
Two novel arrangements of the human fetal globin genes: G gamma-G gamma and A gamma-A gamma.
Powers, P A, Altay, C, Huisman, T H, Smithies, O
We describe two novel arrangements of the human fetal globin gene region: one chromosome with two linked A gamma genes (A gamma-A gamma) and two chromosomes with two linked G gamma genes (G gamma-G...
A comprehensive set of sequence analysis programs for the VAX.
Devereux, J, Haeberli, P, Smithies, O
The University of Wisconsin Genetics Computer Group (UWGCG) has been organized to develop computational tools for the analysis and publication of biological sequence data. A group of programs that...
Mager, D L, Henthorn, P S, Smithies, O
A clone was isolated that contains the deletion junction region from an individual with a deletion associated with Chinese G gamma + (A gamma delta beta)zero thalassemia. A clone containing the...
Henthorn, P S, Mager, D L, Huisman, T H, Smithies, O
A DNA fragment containing the deletion junction region from an Indian individual with a type of hereditary persistence of fetal hemoglobin has been cloned. Using a probe isolated from this...
Human globin psi B2 is not a globin-related sequence.
We have determined the complete nucleotide sequence of 3.4 kilobase pairs of DNA covering the region of the human beta globin gene cluster where a human globin-related sequence psi beta 2 was thought...
Recombinant fragment assay for gene targetting based on the polymerase chain reaction.
The modification of chromosomal genes by homologous recombination between exogenous DNA and a target locus provides a powerful approach to the study of gene function. One of the current limitations...
Hybridization of labeled RNA to DNA in agarose gels.
Shinnick, T M, Lund, E, Smithies, O, Blattner, F R
Specific DNA restriction endonuclease fragments can be identified after electrophoresis in agarose gels by hybridization in the gel (in situ) to radioactive homologous RNA. RNA-DNA hybrids are...
Kucherlapati, R S, Eves, E M, Song, K Y, Morse, B S, Smithies, O
We have used the eukaryotic-prokaryotic shuttle vector pSV2Neo to demonstrate that cultured mammalian somatic cells have the enzymatic machinery to mediate homologous recombination and that the...
Cotransformation and gene targeting in mouse embryonic stem cells.
Reid, L H, Shesely, E G, Kim, H S, Smithies, O
We have investigated cotransformation in mammalian cells and its potential for identifying cells that have been modified by gene targeting. Selectable genes on separate DNA fragments were...
Double-strand gap repair in a mammalian gene targeting reaction.
To better understand the mechanism of homologous recombination in mammalian cells that facilitates gene targeting, we have analyzed the recombination reaction that inserts a plasmid into a homologous...
We have introduced a 4-bp insertion into the hypoxanthine phosphoribosyltransferase (HPRT) gene of a mouse embryonic stem (ES) cell line by using an "in-out" targeting procedure. During the in step,...
Introduction and expression of a fetal human globin gene in mouse fibroblasts.
Hsiung, N, Roginski, R S, Henthorn, P, Smithies, O, Kucherlapati, R, Skoultchi, A I
An 8.5-kilobase segment of cloned human DNA including the complete G gamma-globin gene was introduced into LMTK- cells by the calcium phosphate precipitation method in the presence or absence of...
Maeda, N, Bliska, J B, Smithies, O
Two types of chromosome (R and T) were found by cloning from six human individuals the 3.1-kilobase-pair EcoRI fragment that contains the bipolar Alu family repeat 5' to the delta-globin gene. Two...
Maeda, N, McEvoy, S M, Harris, H F, Huisman, T H, Smithies, O
We have found polymorphisms for the number of tandemly arranged haptoglobin-related (Hpr) genes in the haptoglobin gene cluster of Blacks. Genomic mapping and nucleotide sequence analysis indicate...
Dog Homologue of Human β2-Microglobulin
The amino-acid sequence of human β2-microglobulin, a protein of 100 residues, is related to parts of the constant region of IgG heavy chain. The dog homologue of human β2-microglobulin has now been...
Clones from the human gene complex coding for salivary proline-rich proteins.
Azen, E, Lyons, K M, McGonigal, T, Barrett, N L, Clements, L S, Maeda, N, ...
The salivary protein gene complex consists of a series of loci coding for related but distinct proline-rich proteins (PRPs) found chiefly in saliva. We have screened a library of human genomic DNA...
HLA membrane antigens: sequencing by intrinsic radioactivity.
Ballou, B, McKean, D J, Freedlender, E F, Smithies, O
Radiochemical sequence data are presented for the amino termini of mixed HLA antigens A1 and B8 isolated from a human lymphoblastoid cell line. Cells were labeled intrinsically in small-scale tissue...
Davisson, R L, Kim, H S, Krege, J H, Lager, D J, Smithies, O, Sigmund, C D
The aim of this study was to determine whether elements of the human renin-angiotensin system (RAS) could functionally replace elements of the mouse RAS by complementing the reduced survival and...
Direct evidence for the importance of endothelium-derived nitric oxide in vascular remodeling.
Rudic, R D, Shesely, E G, Maeda, N, Smithies, O, Segal, S S, Sessa, W C
The vascular endothelium mediates the ability of blood vessels to alter their architecture in response to hemodynamic changes; however, the specific endothelial-derived factors that are responsible...
Coagulation defects and altered hemodynamic responses in mice lacking receptors for thromboxane A2.
Thomas, D W, Mannon, R B, Mannon, P J, Latour, A, Oliver, J A, Hoffman, M, ...
Thromboxane A2 (TXA2) is a labile metabolite of arachidonic acid that has potent biological effects. Its actions are mediated by G protein-coupled thromboxane-prostanoid (TP) receptors. TP receptors...
Goy, M F, Oliver, P M, Purdy, K E, Knowles, J W, Fox, J E, Mohler, P J, ...
Atrial natriuretic peptide (ANP) and brain natriuretic peptide (BNP) exert their physiological actions by binding to natriuretic peptide receptor A (NPRA), a receptor guanylate cyclase (rGC) that...
Detloff, P J, Lewis, J, John, S W, Shehee, W R, Langenbach, R, Maeda, N, ...
We describe a two-step strategy to alter any mouse locus repeatedly and efficiently by direct positive selection. Using conventional targeting for the first step, a functional neo gene and a...
Lyons, K. M., Azen, E. A., Goodman, P. A., Smithies, O.
Earlier studies of protein polymorphisms led to the description of 13 linked loci thought to encode the human salivary proline-rich proteins (PRPs). However, more recent studies at the DNA level have...
Lyons, K. M., Stein, J. H., Smithies, O.
Southern blot hybridization analysis of genomic DNAs from 44 unrelated individuals revealed extensive insertion/deletion polymorphisms within the BstNI-type loci (PRB1, PRB2, PRB3 and PRB4) of the...
Homology Requirements for Unequal Crossing over in Humans
Metzenberg, A. B., Wurzer, G., Huisman, THJ., Smithies, O.
To gain insight into mechanisms of unequal homologous recombination in vivo, genes generated by homologous unequal crossovers in the human β-globin gene cluster were examined by nucleotide...
Bozza, P T, Payne, J L, Morham, S G, Langenbach, R, Smithies, O, Weller, P F
Lipid bodies, cytoplasmic inclusions that develop in cells associated with inflammation, are inducible structures that might participate in generating inflammatory eicosanoids. Cis-unsaturated fatty...
Kirby, S L, Cook, D N, Walton, W, Smithies, O
The long-term efficacy of gene therapy using bone marrow transplantation requires the engraftment of genetically altered totipotent hematopoietic stem cells (THSCs). Ex vivo expansion of corrected...
Single-copy transgenic mice with chosen-site integration.
Bronson, S K, Plaehn, E G, Kluckman, K D, Hagaman, J R, Maeda, N, Smithies, O
We describe a general way of introducing transgenes into the mouse germ line for comparing different sequences without the complications of variation in copy number and insertion site. The method...
A mouse model for beta 0-thalassemia.
Yang, B, Kirby, S, Lewis, J, Detloff, P J, Maeda, N, Smithies, O
We have used a "plug and socket" targeting technique to generate a mouse model of beta 0-thalassemia in which both the b1 and b2 adult globin genes have been deleted. Mice homozygous for this...
Mice lacking inducible nitric oxide synthase are not resistant to lipopolysaccharide-induced death.
Laubach, V E, Shesely, E G, Smithies, O, Sherman, P A
Nitric oxide produced by cytokine-inducible nitric oxide synthase (iNOS) is thought to be important in the pathogenesis of septic shock. To further our understanding of the role of iNOS in normal...
Gene targeting approaches to complex genetic diseases: atherosclerosis and essential hypertension.
Gene targeting allows precise, predetermined changes to be made in a chosen gene in the mouse genome. To date, targeting has been used most often for generation of animals completely lacking the...
Bronson, S K, Smithies, O, Mascarello, J T
Injecting male embryonic stem cells into the blastocoel of female embryos occasionally produces female chimeras capable of transmitting the embryonic stem cell genome. In our experiments several...
Regulation of blood pressure by the type 1A angiotensin II receptor gene.
Ito, M, Oliverio, M I, Mannon, P J, Best, C F, Maeda, N, Smithies, O, ...
The renin-angiotensin system plays a critical role in sodium and fluid homeostasis. Genetic or acquired alterations in the expression of components of this system are strongly implicated in the...
Genetic control of blood pressure and the angiotensinogen locus.
Kim, H S, Krege, J H, Kluckman, K D, Hagaman, J R, Hodgin, J B, Best, C F, ...
Variants of the human angiotensinogen gene have been linked in some studies to increased circulating angiotensinogen levels and essential hypertension. To test for direct causality between genotypes...
Targeted gene duplication and disruption for analyzing quantitative genetic traits in mice.
Experimental analysis of complex quantitative genetic traits, such as essential hypertension, should be greatly facilitated by being able to manipulate the expression of a gene in living animals...
Lethal thalassemia after insertional disruption of the mouse major adult beta-globin gene.
Shehee, W R, Oliver, P, Smithies, O
Thalassemias are hereditary anemias caused by mutations that disturb the normal 1:1 balance of alpha- and beta-globin chains that form hemoglobin. We have disrupted the major adult beta-globin gene...
Lubahn, D B, Moyer, J S, Golding, T S, Couse, J F, Korach, K S, Smithies, O
Estrogen receptor and its ligand, estradiol, have long been thought to be essential for survival, fertility, and female sexual differentiation and development. Consistent with this proposed crucial...
Spriggs, M K, Koller, B H, Sato, T, Morrissey, P J, Fanslow, W C, Smithies, O, ...
Transgenic mice lacking an intact beta 2-microglobulin (beta 2m) gene fail to express major histocompatibility complex (MHC) class I proteins on the cell surface and, as a result, are virtually...
Correction of a human beta S-globin gene by gene targeting.
Shesely, E G, Kim, H S, Shehee, W R, Papayannopoulou, T, Smithies, O, Popovich, B W
As a step toward using gene targeting for gene therapy, we have corrected a human beta S-globin gene to the normal beta A allele by homologous recombination in the mouse-human hybrid cell line BSM....
A dominant positive and negative selectable gene for use in mammalian cells.
Schwartz, F, Maeda, N, Smithies, O, Hickey, R, Edelmann, W, Skoultchi, A, ...
We have constructed three different fusion genes containing the herpes simplex virus thymidine kinase (HSV tk) and the bacterial neomycin phosphotransferase (neo) genes. All three fusion genes...
Koller, B H, Kim, H S, Latour, A M, Brigman, K, Boucher, R C, Scambler, P, ...
A gene-targeting construct was made containing 7.8 kilobases of DNA spanning exon 10 of the mouse cystic fibrosis transmembrane regulator (CFTR) gene in which part of the exon has been replaced by...
Reid, L H, Gregg, R G, Smithies, O, Koller, B H
We have examined the expression of transfected human hypoxanthine phosphoribosyltransferase minigenes (HPRT) in mouse embryonic stem (ES) cells. cDNA constructs of this gene that have been...
Genetic contributions to generalized arousal of brain and behavior
Garey, J., Goodwillie, A., Frohlich, J., Morgan, M., Smithies, O., ...
We have identified a generalized arousal component in the behavior of mice. Analyzed by mathematical/statistical approaches across experiments, investigators, and mouse populations, it accounts for...
Targeted disruption of the mouse topoisomerase I gene by camptothecin selection.
Morham, S G, Kluckman, K D, Voulomanos, N, Smithies, O
Topoisomerase I has ubiquitous roles in important cellular functions such as replication, transcription, and recombination. In order to further characterize this enzyme in vivo, we have used gene...
Nandi, A K, Roginski, R S, Gregg, R G, Smithies, O, Skoultchi, A I
We have examined the effect of the site of integration on the expression of cloned genes introduced into cultured erythroid cells. Smithies et al. [Smithies, O., Gregg, R.G., Boggs, S.S., Koralewski,...
Targeted mutation of the Hprt gene in mouse embryonic stem cells.
Doetschman, T, Maeda, N, Smithies, O
The hypoxanthine-guanine phosphoribosyltransferase (Hprt) gene has been mutated in mouse blastocyst-derived embryonic stem cells by site-directed homologous recombination. Embryonic stem cells were...
Koller, B H, Hagemann, L J, Doetschman, T, Hagaman, J R, Huang, S, Williams, P J, ...
Embryonic stem cells (derived from 129/Ola mice) containing a mutant hypoxanthine phosphoribosyltransferase gene that had been corrected in vitro in a planned manner by homologous recombination were...
We have inactivated, by gene targeting, the endogenous beta 2-microglobulin gene in a mouse embryonic stem cell line. A cloned fragment of the beta 2-microglobulin gene with the coding sequence...
Accurate modification of a chromosomal plasmid by homologous recombination in human cells.
Song, K Y, Schwartz, F, Maeda, N, Smithies, O, Kucherlapati, R
We have examined the consequences of modifying mammalian cellular DNA sequences by homologous recombination. A plasmid carrying a 248-base-pair deletion in the neomycin phosphotransferase (neo) gene...
Two novel arrangements of the human fetal globin genes: G gamma-G gamma and A gamma-A gamma.
Powers, P A, Altay, C, Huisman, T H, Smithies, O
We describe two novel arrangements of the human fetal globin gene region: one chromosome with two linked A gamma genes (A gamma-A gamma) and two chromosomes with two linked G gamma genes (G gamma-G...
A comprehensive set of sequence analysis programs for the VAX.
Devereux, J, Haeberli, P, Smithies, O
The University of Wisconsin Genetics Computer Group (UWGCG) has been organized to develop computational tools for the analysis and publication of biological sequence data. A group of programs that...
Mager, D L, Henthorn, P S, Smithies, O
A clone was isolated that contains the deletion junction region from an individual with a deletion associated with Chinese G gamma + (A gamma delta beta)zero thalassemia. A clone containing the...
Henthorn, P S, Mager, D L, Huisman, T H, Smithies, O
A DNA fragment containing the deletion junction region from an Indian individual with a type of hereditary persistence of fetal hemoglobin has been cloned. Using a probe isolated from this...
Human globin psi B2 is not a globin-related sequence.
We have determined the complete nucleotide sequence of 3.4 kilobase pairs of DNA covering the region of the human beta globin gene cluster where a human globin-related sequence psi beta 2 was thought...
Recombinant fragment assay for gene targetting based on the polymerase chain reaction.
The modification of chromosomal genes by homologous recombination between exogenous DNA and a target locus provides a powerful approach to the study of gene function. One of the current limitations...
Hybridization of labeled RNA to DNA in agarose gels.
Shinnick, T M, Lund, E, Smithies, O, Blattner, F R
Specific DNA restriction endonuclease fragments can be identified after electrophoresis in agarose gels by hybridization in the gel (in situ) to radioactive homologous RNA. RNA-DNA hybrids are...
Kucherlapati, R S, Eves, E M, Song, K Y, Morse, B S, Smithies, O
We have used the eukaryotic-prokaryotic shuttle vector pSV2Neo to demonstrate that cultured mammalian somatic cells have the enzymatic machinery to mediate homologous recombination and that the...
Detloff, P J, Lewis, J, John, S W, Shehee, W R, Langenbach, R, Maeda, N, ...
We describe a two-step strategy to alter any mouse locus repeatedly and efficiently by direct positive selection. Using conventional targeting for the first step, a functional neo gene and a...
Cotransformation and gene targeting in mouse embryonic stem cells.
Reid, L H, Shesely, E G, Kim, H S, Smithies, O
We have investigated cotransformation in mammalian cells and its potential for identifying cells that have been modified by gene targeting. Selectable genes on separate DNA fragments were...
Double-strand gap repair in a mammalian gene targeting reaction.
To better understand the mechanism of homologous recombination in mammalian cells that facilitates gene targeting, we have analyzed the recombination reaction that inserts a plasmid into a homologous...
We have introduced a 4-bp insertion into the hypoxanthine phosphoribosyltransferase (HPRT) gene of a mouse embryonic stem (ES) cell line by using an "in-out" targeting procedure. During the in step,...
Introduction and expression of a fetal human globin gene in mouse fibroblasts.
Hsiung, N, Roginski, R S, Henthorn, P, Smithies, O, Kucherlapati, R, Skoultchi, A I
An 8.5-kilobase segment of cloned human DNA including the complete G gamma-globin gene was introduced into LMTK- cells by the calcium phosphate precipitation method in the presence or absence of...
Maeda, N, Bliska, J B, Smithies, O
Two types of chromosome (R and T) were found by cloning from six human individuals the 3.1-kilobase-pair EcoRI fragment that contains the bipolar Alu family repeat 5' to the delta-globin gene. Two...
Maeda, N, McEvoy, S M, Harris, H F, Huisman, T H, Smithies, O
We have found polymorphisms for the number of tandemly arranged haptoglobin-related (Hpr) genes in the haptoglobin gene cluster of Blacks. Genomic mapping and nucleotide sequence analysis indicate...
Dog Homologue of Human β2-Microglobulin
The amino-acid sequence of human β2-microglobulin, a protein of 100 residues, is related to parts of the constant region of IgG heavy chain. The dog homologue of human β2-microglobulin has now been...
Clones from the human gene complex coding for salivary proline-rich proteins.
Azen, E, Lyons, K M, McGonigal, T, Barrett, N L, Clements, L S, Maeda, N, ...
The salivary protein gene complex consists of a series of loci coding for related but distinct proline-rich proteins (PRPs) found chiefly in saliva. We have screened a library of human genomic DNA...
HLA membrane antigens: sequencing by intrinsic radioactivity.
Ballou, B, McKean, D J, Freedlender, E F, Smithies, O
Radiochemical sequence data are presented for the amino termini of mixed HLA antigens A1 and B8 isolated from a human lymphoblastoid cell line. Cells were labeled intrinsically in small-scale tissue...
Davisson, R L, Kim, H S, Krege, J H, Lager, D J, Smithies, O, Sigmund, C D
The aim of this study was to determine whether elements of the human renin-angiotensin system (RAS) could functionally replace elements of the mouse RAS by complementing the reduced survival and...
Direct evidence for the importance of endothelium-derived nitric oxide in vascular remodeling.
Rudic, R D, Shesely, E G, Maeda, N, Smithies, O, Segal, S S, Sessa, W C
The vascular endothelium mediates the ability of blood vessels to alter their architecture in response to hemodynamic changes; however, the specific endothelial-derived factors that are responsible...
Coagulation defects and altered hemodynamic responses in mice lacking receptors for thromboxane A2.
Thomas, D W, Mannon, R B, Mannon, P J, Latour, A, Oliver, J A, Hoffman, M, ...
Thromboxane A2 (TXA2) is a labile metabolite of arachidonic acid that has potent biological effects. Its actions are mediated by G protein-coupled thromboxane-prostanoid (TP) receptors. TP receptors...
Lyons, K. M., Azen, E. A., Goodman, P. A., Smithies, O.
Earlier studies of protein polymorphisms led to the description of 13 linked loci thought to encode the human salivary proline-rich proteins (PRPs). However, more recent studies at the DNA level have...
Lyons, K. M., Stein, J. H., Smithies, O.
Southern blot hybridization analysis of genomic DNAs from 44 unrelated individuals revealed extensive insertion/deletion polymorphisms within the BstNI-type loci (PRB1, PRB2, PRB3 and PRB4) of the...
Homology Requirements for Unequal Crossing over in Humans
Metzenberg, A. B., Wurzer, G., Huisman, THJ., Smithies, O.
To gain insight into mechanisms of unequal homologous recombination in vivo, genes generated by homologous unequal crossovers in the human β-globin gene cluster were examined by nucleotide...
Goy, M F, Oliver, P M, Purdy, K E, Knowles, J W, Fox, J E, Mohler, P J, ...
Atrial natriuretic peptide (ANP) and brain natriuretic peptide (BNP) exert their physiological actions by binding to natriuretic peptide receptor A (NPRA), a receptor guanylate cyclase (rGC) that...