Ins Gene - Genecards | Ins Protein | Ins Antibody
Hyperproinsulinemia (HPRI) [MIM:616214]: An autosomal dominant condition characterized by elevated levels of serum proinsulin-like material. {ECO:0000269 PubMed:1601997, ECO:0000269 PubMed:2196279, ECO:0000269 PubMed:3470784, ECO:0000269 PubMed:4019786}. Note=The disease is caused by mutations affecting the gene represented in this entry. Diabetes mellitus, insulin-dependent, 2 (IDDM2) [MIM:125852]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:18192540}. Note=The disease is caused by mutations affecting the gene represented in this entry. Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]: A rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy. {ECO:0000269 PubMed:17855560, ECO:0000269 PubMed:18162506}. Note=The disease is caused by mutations affecting the gene represented in this entry. Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269 PubMed:18162506, ECO:0000269 PubMed:18192540, ECO:0000269 PubMed:20226046, ECO:0000269 PubMed: Continue reading >>
Dna, Genes And Chromosomes
The sides are sugar and phosphate molecules. The rungs are pairs of chemicals called 'nitrogenous bases', or 'bases' for short. There are four types of base: adenine (A), thymine (T), guanine (G) and cytosine (C). These bases link in a very specific way: A always pairs with T, and C always pairs with G. The DNA molecule has two important properties. It can make copies of itself. If you pull the two strands apart, each can be used to make the other one (and a new DNA molecule). It can carry information. The order of the bases along a strand is a code - a code for making proteins. A gene is a length of DNA that codes for a specific protein. So, for example, one gene will code for the protein insulin, which is important role in helping your body to control the amount of sugar in your blood. Genes are the basic unit of genetics. Human beings have 20,000 to 25,000 genes. These genes account for only about 3 per cent of our DNA. The function of the remaining 97 per cent is still not clear, although scientists think it may have something to do with controlling the genes. If you took the DNA from all the cells in your body and lined it up, end to end, it would form a strand 6000 million miles long (but very, very thin)! To store this important material, DNA molecules are tightly packed around proteins called histones to make structures called chromosomes. Human beings have 23 pairs of chromosomes in every cell, which makes 46 chromosomes in total. A photograph of a person's chromosomes, arranged according to size, is called a karyotype. The sex chromosomes determine whether you are a boy (XY) or a girl (XX). The other chromosomes are called autosomes. The largest chromosome, chromosome 1, contains about 8000 genes. The smallest chromosome, chromosome 21, contains about 300 gen Continue reading >>
Omim Entry - * 176730 - Insulin; Ins
Insulin, synthesized by the beta cells of the islets of Langerhans, consists of 2 dissimilar polypeptide chains, A and B, which are linked by 2 disulfide bonds. However, unlike many other proteins, e.g., hemoglobin, made up of structurally distinct subunits, insulin is under the control of a single genetic locus; chains A and B are derived from a 1-chain precursor, proinsulin, which was discovered by Steiner and Oyer (1967). Proinsulin is converted to insulin by the enzymatic removal of a segment that connects the amino end of the A chain to the carboxyl end of the B chain. This segment is called the C (for 'connecting') peptide. The human insulin gene contains 3 exons; exon 2 encodes the signal peptide, the B chain, and part of the C-peptide, while exon 3 encodes the remainder of the C-peptide and the A chain (Steiner and Oyer, 1967). The rat, mouse, and at least 3 fish species have 2 insulin genes (Lomedico et al., 1979). The single human insulin gene corresponds to rat gene II; each has 2 introns at corresponding positions. Deltour et al. (1993) showed that in the mouse embryo the 2 proinsulin genes are regulated independently, at least in part. The existence of a single insulin gene in man is supported by the findings in patients with mutations. The greatest variation among species is in the C-peptide. Receptor binding parts have been highly conserved. Some of these sites are involved with insulin-like activity, some with growth-factor activity, and some with both. INS-IGF2 Spliced Read-Through Transcripts By EST database analysis and RT-PCR, Monk et al. (2006) identified 2 read-through transcripts, which they called the INSIGF long and short isoforms, that contain exons from both the INS gene and the downstream IGF2 gene (147470). The INSIGF short isoform contains Continue reading >>
Bbc - Gcse Bitesize: The Genetic Code
Genes are sections of DNA. Each gene is a set of coded instructions for making a particular protein. DNA is a chemical code, or set of instructions. Our bodies need proteins for growth and development, and the DNA controls which proteins are made. The code consists of four different chemicals, or bases, that always pair up in the same way. The order of these pairs of bases along the DNA molecule codes for all the different proteins. A section of DNA that codes for one particular protein is called a gene. Each chromosome contains thousands of different genes. The genetic code of the DNA always remains safe inside the nucleus [nucleus: The central part of an atom. It contains protons and neutrons, and has most of the mass of the atom. ]. But the proteins are made outside the nucleus in the cytoplasm of the cell. For this to happen, a copy of the genetic code of a gene is made. This copy then passes out of the nucleus into the cytoplasm where the protein is made. Read on if you are taking the Higher paper. Continue reading >>
Chromosome 11 - Wikipedia
Human chromosome 11 pair after G-banding . Chromosome 11 is one of the 23 pairs of chromosomes in humans . Humans normally have two copies of this chromosome. Chromosome 11 spans about 135 million base pairs (the building material of DNA ) and represents between 4 and 4.5 percent of the total DNA in cells . The shorter arm (p arm) is termed 11p while the longer arm (q arm) is 11q. At about 21.5 genes per megabase , chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome . More than 40% of the 856 olfactory receptor genes in the human genome are located in 28 single-gene and multi-gene clusters along the chromosome. The following are some of the gene count estimates of human chromosome 11. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). Among various projects, the collaborative consensus coding sequence project ( CCDS ) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes . [4] The following is a partial list of genes on human chromosome 11. For complete list, see the link in the infobox on the right. ACAT1 : acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase) ACRV1 : encoding protein Acrosomal protein SP-10 ALKBH3 encoding protein AlkB homolog 3, alpha-ketoglutaratedependent dioxygenase API5 : encoding protein Apoptosis inhibitor 5 C11orf16 : encoding protein Uncharacterized protein C11orf16 C11orf49 : encoding protein UPF0705 protein C11orf49 C11orf54 : encoding protein Ester hydrolase C11orf54 C11orf73 : chromosome 11, open reading frame 73 C11orf86 : encoding protein Uncharacterized p Continue reading >>
Ins - Insulin Precursor - Homo Sapiens (human) - Ins Gene & Protein
insulin-like growth factor receptor binding Source: BHF-UCL Inferred from Physical Interaction Covers physical interactions between the gene product of interest and another molecule (or ion, or complex). More information in the GO evidence code guide Inferred from physical interactioni insulin receptor binding Source: UniProtKB Inferred from Direct Assay Used to indicate a direct assay for the function, process or component indicated by the GO term. More information in the GO evidence code guide Inferred from direct assayi protease binding Source: UniProtKB Inferred from Physical Interaction Covers physical interactions between the gene product of interest and another molecule (or ion, or complex). More information in the GO evidence code guide Inferred from physical interactioni acute-phase response Source: BHF-UCL Inferred from Direct Assay Used to indicate a direct assay for the function, process or component indicated by the GO term. More information in the GO evidence code guide Inferred from direct assayi alpha-beta T cell activation Source: UniProtKB Inferred from Direct Assay Used to indicate a direct assay for the function, process or component indicated by the GO term. More information in the GO evidence code guide Inferred from direct assayi cell-cell signaling Source: UniProtKB Inferred by Curator Used for cases where an annotation is not supported by any evidence but can be reasonably inferred by a curator from other GO annotations for which evidence is available. More information in the GO evidence code guide Inferred by curatori cellular protein metabolic process Source: Reactome cognition Source: ARUK-UCL Traceable Author Statement Used for information from review articles where the original experiments are traceable through that article and also for in Continue reading >>
Insulin Gene
The polypeptide hormone insulin is required for normal glucose homeostasis. Lack of insulin or insulin insufficiency leads to diabetes that affects up to 5% of the human population. Gene location Insulin is formed as a precursor protein preproinsulin. This is coded by the INS gene. In some animals there are two insulin genes or two genes that code for insulin. In most animals, including humans, a single gene is present. The hypothesis of a single gene is enhanced by the genetic studies of inheritance of defects in the insulin gene. In addition, there seems to be no sex-predilection while inheriting defects in the insulin gene. This means that the gene coding for insulin does not lie in the sex chromosomes (XX for females and XY for males) but in the autosomes (the 20 pairs of chromosomes barring the one pair of sex chromosomes). The insulin gene has been recently uncoded in its complete form in genomic studies. Human and rat insulin genes have been cloned and the DNA has been sequenced. It was seen that mouse and rat insulins are identical and they have similar gene sequences and organization. Similarities in genetic sequences in human have been found as well. Studies reveal that the 14-kilobase fragment that codes for insulin lies on the chromosome 11 in humans. Gene stimulation and inhibition The insulin gene is expressed almost exclusively in pancreatic β-cells. Glucose in blood is the major stimulant that regulates the insulin gene expression and enables the beta cells to produce insulin and maintain an adequate store of intracellular insulin to sustain the secretory demand. Glucose in blood acts via transcription factors like pancreatic/duodenal homeobox-1 (PDX-1, mammalian homologue of avian MafA/L-Maf (MafA), Beta2/Neuro D (B2)), and controls the rate of transcr Continue reading >>
How Do We Know An Inserted Gene Does Only What It Is Supposed To Do?
Articles: How GMOs Are Made GMO Basics Genes are like recipes, they tell the cell how to make a particular protein. It is the presence (or absence) of the particular protein (often an enzyme) that gives the plant, animal or microbe a trait. Insulin, for example, is a protein that helps control blood sugar in mammals. The insulin gene recipe is carried in the genome of mammals, but is not present in the genomes of animals lacking blood, nor in plants or microbes, for that matter, as they have no blood to regulate. Since the 1980s, insulin used by diabetics is made by Genetically Modified bacteria into which the human insulin gene recipe was inserted. Although the bacteria have no insulin gene themselves, they were able to read and follow the human gene recipe to make insulin identical to the insulin made by human cells. This bacterial source GM insulin is extracted from the bacterial culture medium and provided to diabetics. Genetic modification works only because all living things use the same genetic language, so a human gene—such as the insulin gene— transferred to bacteria will work the same way in the bacteria as it does in humans. Genes are composed of long stretches of DNA, which is composed of the chemical building blocks we abbreviate as a,t,c and g (Adenine, Thymine, Cytosine and Guanine, respectively). Just as in the human language English, in which out thousands of words are composed of specific sequences of 26 letters, in biology all genes in all species are made of specific sequences of the four DNA bases, a,t,c and g. The human insulin gene consists of 4044 of these bases, beginning with …atggccctgtggatgcg… at the start of the insulin recipe. When the plant, animal or microbe is ‘expressing’ a gene to make the requisite protein, it reads the DN Continue reading >>
Ins Insulin [ Homo Sapiens (human) ]
Data suggest early peaks in glucagon-like peptide-1 and glucagon secretion/blood level together trigger exaggerated insulinotropic response (high insulin secretion/level) to eating and consequent hypoglycaemia in patients with postprandial hypoglycaemia as a postoperative complication following Roux-en-Y gastric bypass for obesity complicated by type 2 diabetes; this retrospective cohort study was conducted in London. Studies on the susceptibility to aggregation of truncated analogs of insulin amyloidogenic core show three groups of peptides. Truncation of A13-A419 fragment shows that fibrous structures are formed by all peptides bearing (13)H-LeuTyr-OH(14). Propensity to aggregation was found for (16)H-TyrLeu-OH(17) B12-B17 fragment. Insulin secretion by pancreatic beta-cells increases after adrenalectomy for aldosterone-producing adenomas; adrenalectomy in these patients prevents primary aldosteronism; such data suggest that aldosterone excess inhibits insulin secretion by pancreatic beta-cells. This retrospective study was conducted in Japan. Continue reading >>
G G U A U C G U G C A A U G U U G U A C U U C C A U U
How DNA Controls the Workings of the Cell Below are two partial sequences of DNA bases (shown for only one strand of DNA) Sequence 1 is from a human and sequence 2 is from a cow. In both humans and cows, this sequence is part of a set of instructions for controlling a bodily function. In this case, the sequence contains the gene to make the protein insulin. Insulin is necessary for the uptake of sugar from the blood. Without insulin, a person cannot use digest sugars the same way others can, and they have a disease called diabetes. Instructions: 1. Using the DNA sequence, make a complimentary RNA strand from both the human and the cow. Write the RNA directly below the DNA strand (remember to substitute U's for T's in RNA) 2. Use the codon table in your book to determine what amino acids are assembled to make the insulin protein in both the cow and the human. Write your amino acid chain directly below the RNA sequence. Sequence 1 – Human C C A T A G C A C G T T A C A A C G T G A A G G T A A RNA : G G U A U C G U G C A A U G U U G U A C U U C C A U U Amino Acids: Gly – Ile – Val – Gln – Cys – Cys – Thr – Ser - Ile Sequence 2 - Cow C C G T A G C A T G T T A C A A C G C G A A G G C A C RNA: G G C A U C G U A C A A U G U U G C G C U U C C G U G Amino Acids: Gly – Ile – Val – Gln –Cys – Cys – Ala – Ser - Val Analysis 1. Comparing the human gene to the cow gene, how many of the codons are exactly the same? ____5_______ 2. How many of the amino acids in the sequence are exactly the same? ____7____ 3. Could two humans (or two cows) have some differences in their DNA sequences for insulin, yet still make the exact same insulin proteins? Explain. They could still make the exact Continue reading >>
Insulin Gene Expression Is Regulated By Dna Methylation
Insulin Gene Expression Is Regulated by DNA Methylation Current address: Department of Internal Medicine and Therapeutics, Osaka University Graduate School of Medicine, Suita-City, Japan Affiliation Department of Diabetes, Endocrinology, & Metabolism, Research Institute of City of Hope, Duarte, California, United States of America Current address: Department of Orthopedic Surgery, Rush University Medical Center, Chicago, Illinois, United States of America Affiliation Department of Biology, Beckman Research Institute of City of Hope, Duarte, California, United States of America Affiliation Department of Diabetes, Endocrinology, & Metabolism, Research Institute of City of Hope, Duarte, California, United States of America Affiliation Department of Diabetes, Endocrinology, & Metabolism, Research Institute of City of Hope, Duarte, California, United States of America Affiliation Department of Diabetes, Endocrinology, & Metabolism, Research Institute of City of Hope, Duarte, California, United States of America Affiliation Department of Diabetes, Endocrinology, & Metabolism, Research Institute of City of Hope, Duarte, California, United States of America Affiliation Department of Diabetes, Endocrinology, & Metabolism, Research Institute of City of Hope, Duarte, California, United States of America Affiliation Department of Biology, Beckman Research Institute of City of Hope, Duarte, California, United States of America Affiliation Department of Diabetes, Endocrinology, & Metabolism, Research Institute of City of Hope, Duarte, California, United States of America Continue reading >>
Lilly's Rdna Insulin
Recombinant DNA Technology in the Synthesis of Human Insulin The nature and purpose of synthesising human insulin. Since Banting and Best discovered the hormone, insulin in 1921. (1) diabetic patients, whose elevated sugar levels (see fig. 1) are due to impaired insulin production, have been treated with insulin derived from the pancreas glands of abattoir animals. The hormone, produced and secreted by the beta cells of the pancreas' islets of Langerhans, (2) regulates the use and storage of food, particularly carbohydrates. Fluctuations in diabetic person's blood glucose levels, compared with healthy individuals. Source: Hillson,R. - Diabetes: A beyond basics guide, pg.16. Although bovine and porcine insulin are similar to human insulin, their composition is slightly different. Consequently, a number of patients' immune systems produce antibodies against it, neutralising its actions and resulting in inflammatory responses at injection sites. Added to these adverse effects of bovine and porcine insulin, were fears of long term complications ensuing from the regular injection of a foreign substance, (3) as well as a projected decline in the production of animal derived insulin. (4) These factors led researchers to consider synthesising Humulin by inserting the insulin gene into a suitable vector, the E. coli bacterial cell, to produce an insulin that is chemically identical to its naturally produced counterpart. This has been achieved using Recombinant DNA technology. This method (see fig. 2) is a more reliable and sustainable (5) method than extracting and purifying the abattoir by-product. An overview of the recombination process. Source: Novo -Nordisk promotional brochure,pg 6. Understanding the genetics involved. The structure of insulin. Chemically, insulin is a sm Continue reading >>
Genetic Information | Biology For Majors I
The genetic information of an organism is stored in DNA molecules. How can one kind of molecule contain all the instructions for making complicated living beings like ourselves? What component or feature of DNA can contain this information? It has to come from the nitrogen bases, because, as you already know, the backbone of all DNA molecules is the same. But there are only four bases found in DNA: G, A, C, and T. The sequence of these four bases can provide all the instructions needed to build any living organism. It might be hard to imagine that 4 different letters can communicate so much information. But think about the English language, which can represent a huge amount of information using just 26 letters. Even more profound is the binary code used to write computer programs. This code contains only ones and zeros, and think of all the things your computer can do. The DNA alphabet can encode very complex instructions using just four letters, though the messages end up being really long. For example, the E. coli bacterium carries its genetic instructions in a DNA molecule that contains more than five million nucleotides. The human genome (all the DNA of an organism) consists of around three billion nucleotides divided up between 23 paired DNA molecules, or chromosomes. The information stored in the order of bases is organized into genes: each gene contains information for making a functional product. The genetic information is first copied to another nucleic acid polymer, RNA (ribonucleic acid), preserving the order of the nucleotide bases. Genes that contain instructions for making proteins are converted to messenger RNA (mRNA). Some specialized genes contain instructions for making functional RNA molecules that dont make proteins. These RNA molecules function by Continue reading >>
What Is Genetic Engineering?
Genetic engineering refers to the direct manipulation of DNA to alter an organism’s characteristics (phenotype) in a particular way. What is genetic engineering? Genetic engineering, sometimes called genetic modification, is the process of altering the DNA? in an organism’s genome?. This may mean changing one base pair? (A-T or C-G), deleting a whole region of DNA, or introducing an additional copy of a gene?. It may also mean extracting DNA from another organism’s genome and combining it with the DNA of that individual. Genetic engineering is used by scientists to enhance or modify the characteristics of an individual organism. For example, genetic engineering can be used to produce plants that have a higher nutritional value or can tolerate exposure to herbicides. How does genetic engineering work? To help explain the process of genetic engineering we have taken the example of insulin, a protein? that helps regulate the sugar levels in our blood. Normally insulin? is produced in the pancreas?, but in people with type 1 diabetes? there is a problem with insulin production. People with diabetes therefore have to inject insulin to control their blood sugar levels. Genetic engineering has been used to produce a type of insulin, very similar to our own, from yeast and bacteria? like E. coli?. This genetically modified insulin, ‘Humulin’ was licensed for human use in 1982. The genetic engineering process A small section is then cut out of the circular plasmid by restriction enzymes, ‘molecular scissors’. The gene for human insulin is inserted into the gap in the plasmid. This plasmid is now genetically modified. The genetically modified plasmid is introduced into a new bacteria or yeast cell. This cell then divides rapidly and starts making insulin. To create Continue reading >>
Type 1 Diabetes Associates With The Insulin Gene.
Background The insulin gene (INS) on chromosome 11p 15 codes for the islet beta cell protein, pre-proinsulin, a peptide of 110 amino acids. Preproinsulin, a precursor, is processed by proteases to proinsulin by removal of the signal peptide and ultimately to biologically active insulin after the cleavage of C-peptide (figure 1). Autoimmunity to insulin in diabetes In type 1 diabetes insulin producing beta cells are the focus of autoimmune destruction, and their loss results in diabetes. Evidence from the NOD mouse model of autoimmune diabetes suggests that insulin is the primary autoantigen in this model [1] [2] and autoantibodies to insulin can indeed be detected in humans in the first year of life[3]. Further evidence that insulin itself plays a fundamental role in the pathogenesis of autoimmune diabetes emerged when genetic associations between INS and type 1 diabetes were reported by Bell and colleagues in 1984 in a relatively small study of 113 affected individuals compared with 83 healthy controls and 76 with type 2 diabetes[4]. This association has been consistently replicated in every genetic analysis since: genome wide association studies (GWAS) have confirmed that the insulin gene locus is the second most important susceptibility locus after the HLA locus, contributing about 10% of genetic susceptibility. Molecular Biology of the insulin Gene The insulin gene comprises 3 exons and 2 introns interspersed with several polymorphisms in linkage disequilibrium. Type 1 diabetes is most closely associated with a variable number tandem repeat (VNTR) in the INS promoter [5][6] about 0.5Kb upstream of the transcription start site. Although highly polymorphic, three different classes of alleles exist at this locus, short class 1 variants (26-63 repeats), intermediate cla Continue reading >>
