mutations

DEFINITION:

1. Changes in form, quality, or some other characteristic.

V2 vasopressin receptor

DEFINITION:

The molecular structure within a cell or on the surface to which the antidiuretic hormone, arginine vasopressin binds.

AVPR2

DEFINITION:

Arginine-vasopressin receptor 2 gene.

gene

DEFINITION:

A segment of a DNA molecule that contains all the information required for synthesis of a product (polypeptide chain or RNA molecule), including both coding and non-coding sequences. It is the biological unit of heredity, self-reproducing, and transmitted from parent to progeny. Each gene has a specific position (locus) on the chromosome map. From the standpoint of function, genes are conceived of as structural, operator, and regulatory genes.

wild-type gene - The normal allele of a gene, sometimes symbolized by +.

X-linked gene - A gene carried on the X chromosome; the corresponding trait, whether dominant or recessive, is always expressed in males, who have only one X chromosome. X linkage is used sometimes synonymously with sex linkage since no genetic disorders have as yet been associated with genes on the Y chromosome.

molecular

DEFINITION:

Of, pertaining to, or composed of molecules.

X-linked nephrogenic diabetes insipidus

DEFINITION:

A form of diabetes insipidus, inherited as an X-linked trait, caused by failure of the renal tubules to reabsorb water in response to antidiuretic hormone, without disturbance in the renal filtration and solute excretion rates; the condition does not respond to exogenous vasopressin.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

mutations

DEFINITION:

1. Changes in form, quality, or some other characteristic.

AVPR2 gene

DEFINITION:

Arginine-vasopressin receptor 2 gene.

novel

DEFINITION:

Of a new kind, or different from anything seen or known before.

mutations

DEFINITION:

1. Changes in form, quality, or some other characteristic.

functional analysis

DEFINITION:

Determining the function or characteristic behaviors of component parts of a substance.

messenger

DEFINITION:

An information carrier, such as a hormone or an electrical impulse.

enzyme

DEFINITION:

Any of numerous proteins that are produced by living cells and catalyze specific biochemical reactions at body temperatures.

ligand-binding

DEFINITION:

See ligand.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

wild type

DEFINITION:

In genetics, the standard phenotype for any experimental organism; also a gene that determines a standard phenotypic trait. See also under gene .

AVPR2

DEFINITION:

Arginine-vasopressin receptor 2 gene.

expression

DEFINITION:

1. The aspect or appearance of the face (or surface of a cell) as determined by the physical or emotional state.

2. The act of squeezing or evacuating by pressure; a term used in pharmacy, surgery, and obstetrics.

3. The detectable effect of a gene.

4. A representation of value, relation, or the like (e.g., ratio).

mutant

DEFINITION:

1. A gene or organism that has undergone genetic mutation.

basal

DEFINITION:

Pertaining to or situated near a base.

basal

DEFINITION:

Pertaining to or situated near a base.

mutation

DEFINITION:

1. A change in form, quality, or some other characteristic.

2. In genetics, a permanent transmissible change in the genetic material, usually in a single gene.

frameshift mutation - A mutation resulting from an addition or subtraction that is not an exact multiple of 3 base pairs in a coding sequence. From the point of mutation onwards, base triplets (codons) are read out of phase; the reading frame of the gene is changed, and a completely different set of amino acids is made into protein.

loss-of-function mutation - Impairment of the function of a gene caused by mutation.

missense mutation - A mutation that changes a codon so that it codes for a different amino acid.

nonsense mutation - A mutation in which one of the three terminator codons in the mRNA (UAG, amber; UAA, ochre; UGA, umber or opal), used to signal the end of a polypeptide, appears in the middle of a genetic message, causes premature termination of transcription, and releases incomplete, generally nonfunctional polypeptides from the ribosome.

point mutation - A mutation resulting from a change in a single base pair in the DNA molecule, caused by the substitution of one nucleotide for another.

cell surface

DEFINITION:

See plasma membrane.

cAMP

DEFINITION:

Cyclic AMP (cyclic adenosine monophosphate).

mutation

DEFINITION:

1. A change in form, quality, or some other characteristic.

2. In genetics, a permanent transmissible change in the genetic material, usually in a single gene.

frameshift mutation - A mutation resulting from an addition or subtraction that is not an exact multiple of 3 base pairs in a coding sequence. From the point of mutation onwards, base triplets (codons) are read out of phase; the reading frame of the gene is changed, and a completely different set of amino acids is made into protein.

loss-of-function mutation - Impairment of the function of a gene caused by mutation.

missense mutation - A mutation that changes a codon so that it codes for a different amino acid.

nonsense mutation - A mutation in which one of the three terminator codons in the mRNA (UAG, amber; UAA, ochre; UGA, umber or opal), used to signal the end of a polypeptide, appears in the middle of a genetic message, causes premature termination of transcription, and releases incomplete, generally nonfunctional polypeptides from the ribosome.

point mutation - A mutation resulting from a change in a single base pair in the DNA molecule, caused by the substitution of one nucleotide for another.

affinity

DEFINITION:

1. A special attraction for a specific element, organ, or structure.

2. Chemical affinity.

3. In immunology, a thermodynamic expression of the strength of interaction between a single antigen-binding site and a single antigenic determinant (and thus of the stereochemical compatibility between them), most accurately applied to interactions among simple, uniform antigenic determinants such as haptens. Expressed as the association constant (K liters mole^-1), which, owing to the heterogeneity of affinities in a population of antibody molecules of a given specificity, actually represents an average value (mean intrinsic association constant).

vasopressin

DEFINITION:

1. One of two octapeptide hormones formed by the neuronal cells of the hypothalamic nuclei and stored in the posterior lobe of the pituitary gland (neurohypophysis), the other being oxytocin. It stimulates the contraction of the muscular tissue of the capillaries and arterioles, raising the blood pressure. It promotes contraction of the intestinal musculature and increases peristalsis, and also exerts some contractile influence on the uterus. It also has a specific effect on the epithelial cells of the distal portion of the uriniferous tubule, augmenting resorption of water independently of solutes, resulting in concentration of urine and dilution of blood serum. Its rate of secretion is regulated chiefly by the osmolarity of the plasma.

2. [USP], A pharmaceutical preparation of the same principle, prepared synthetically or obtained from the posterior pituitary of healthy domestic animals used for food by man; used mainly as an antidiuretic in the treatment of acute or chronic diabetes insipidus, administered intramuscularly as a test of hypothalamo-neurohypophysial-renal function in distinguishing central from nephrogenic diabetes insipidus; it may also be used to stimulate smooth muscle tissue, especially to induce vasoconstriction in the presence of hemorrhage. Called also antidiuretic hormone (ADH).

binding

DEFINITION:

1. Wrapping with a binder or bandage.

2. Forming a weak, reversible chemical bond, e.g., antigen to antibody or hormone to receptor.

ligand binding

DEFINITION:

See "ligand."

concentration

DEFINITION:

1. Increase in strength by evaporation.

2. The ratio of the mass or volume of a solute to the mass or volume of the solution or solvent.

vasopressin

DEFINITION:

1. One of two octapeptide hormones formed by the neuronal cells of the hypothalamic nuclei and stored in the posterior lobe of the pituitary gland (neurohypophysis), the other being oxytocin. It stimulates the contraction of the muscular tissue of the capillaries and arterioles, raising the blood pressure. It promotes contraction of the intestinal musculature and increases peristalsis, and also exerts some contractile influence on the uterus. It also has a specific effect on the epithelial cells of the distal portion of the uriniferous tubule, augmenting resorption of water independently of solutes, resulting in concentration of urine and dilution of blood serum. Its rate of secretion is regulated chiefly by the osmolarity of the plasma.

2. [USP], A pharmaceutical preparation of the same principle, prepared synthetically or obtained from the posterior pituitary of healthy domestic animals used for food by man; used mainly as an antidiuretic in the treatment of acute or chronic diabetes insipidus, administered intramuscularly as a test of hypothalamo-neurohypophysial-renal function in distinguishing central from nephrogenic diabetes insipidus; it may also be used to stimulate smooth muscle tissue, especially to induce vasoconstriction in the presence of hemorrhage. Called also antidiuretic hormone (ADH).

concentrations

DEFINITION:

1. Increases in strength by evaporation.

2. The ratios of the mass or volume of a solute to the mass or volume of the solution or solvent.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

characterization

DEFINITION:

1. Indicating the character or peculiar quality of a person or thing; indicating a typical or distinctive quality.

2. Indicating a distinguishing feature or quality.

molecular

DEFINITION:

Of, pertaining to, or composed of molecules.

deletion

DEFINITION:

In genetics, the loss of any portion of the genetic material on a chromosome, ranging from loss of a single nucleotide within, which can throw the reading frame out of register and cause a frameshift mutation if it is within a coding sequence, to loss of part or all of a gene, to loss of a microscopically visible portion of the chromosome, possibly involving multiple genes.

AVPR2 gene

DEFINITION:

Arginine-vasopressin receptor 2 gene.

locus

DEFINITION:

1. A general anatomical term for a site in the body.
2. In genetics, the position of a gene on a chromosome, different forms of genes (alleles) being found at the same position on homologous chromosomes.

encodes

DEFINITION:

Converts (a message, information, etc.) into code.

protein

DEFINITION:

Any of a group of complex organic compounds which contain carbon, hydrogen, oxygen, nitrogen, and usually sulfur, the characteristic element being nitrogen, and which are widely distributed in plants and animals. Proteins, the principal constituents of the protoplasm of all cells, are of high molecular weight and consist essentially of combinations of a-amino acids in peptide linkages. Twenty different amino acids are commonly found in proteins, and each protein has a unique, genetically defined amino acid sequence which determines its specific shape and function. They serve as enzymes, structural elements, hormones, immunoglobulins, etc., and are involved in oxygen transport, muscle contraction, electron transport, and other activities throughout the body, and in photosynthesis.

binding protein - any of a number of plasma proteins (See below) that bind to hormones of low solubility (chiefly the thyroid and steroid hormones), thus providing a transport system for them; some are specific for particular hormones, while others bind to any sparingly soluble hormones. Called also carrier protein or transport protein (See below).

carrier proteins - A binding protein (See above).

plasma proteins - The hundreds of different proteins present in blood plasma, including carrier proteins (such as albumin, transferrin, and haptoglobin), fibrinogen and other coagulation factors, complement components, immunoglobulins, enzyme inhibitors, precursors of substances such as angiotensin and bradykinin, and many other types of proteins.

transport protein - binding protein (See above).

physiological

DEFINITION:

1. Of or pertaining to physiology.
2. Characteristic of or appropriate to an organism's healthy or normal functioning.
3. Differing in, involving, or affecting physiological factors.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

deletion

DEFINITION:

In genetics, the loss of any portion of the genetic material on a chromosome, ranging from loss of a single nucleotide within, which can throw the reading frame out of register and cause a frameshift mutation if it is within a coding sequence, to loss of part or all of a gene, to loss of a microscopically visible portion of the chromosome, possibly involving multiple genes.

AVPR2 gene

DEFINITION:

Arginine-vasopressin receptor 2 gene.

abnormalities

DEFINITION:

1. The quality or fact of being abnormal.


2. Malformations, deformities, or anomalies.

physical examination

DEFINITION:

Inspection, auscultation, percussion, or other means of investigation of the body, especially for diagnosing disease.

radiography

DEFINITION:

The making of film records (radiographs) of internal structures of the body by passage of x-rays or gamma rays through the body to act on specially sensitized film. Formerly called roentgenography .

analysis

DEFINITION:

1. Separation into component parts or elements; the act of determining the component parts of a substance.

2. Psychoanalysis.

chemical

DEFINITION:

1. Of, or pertaining to, chemistry.

2. A substance composed of chemical elements, or obtained by chemical processes.

enzyme

DEFINITION:

Any of numerous proteins that are produced by living cells and catalyze specific biochemical reactions at body temperatures.

hormone

DEFINITION:

A product of living cells that circulates in body fluids and produces a specific effect on the activity of cells remote from its point of origin; especially: one exerting a stimulatory effect on a cellular activity.

hypophysiotropic hormones - Hormones produced by the hypothalamus, usually releasing hormones (see below), which maintain the endocrine functions of cells of the adenohypophysis.

neurohormone - A hormone secreted by a specialized neuron into the bloodstream, the cerebrospinal fluid, or the intercellular spaces of the nervous system.

releasing hormones - Hormones elaborated in one structure that cause the release of hormones from another structure, such as those from the hypothalamus that act on the adenohypophysis. The term is applied to substances of established chemical identity, whereas substances of unknown chemical structure are called releasing factors .

immunologic

DEFINITION:

Pertaining to immunology.

hematologic

DEFINITION:

Pertaining to the study of the nature, function, and diseases of the blood and of blood-forming organs.

heterozygous

DEFINITION:

Pertaining to heterozygosity.

differential

DEFINITION:

Pertaining to a difference or differences.

cell

DEFINITION:

1. Any one of the minute protoplasmic masses that make up organized tissue, consisting of a nucleus which is surrounded by cytoplasm which contains the various organelles and is enclosed in the cell or plasma membrane. A cell is the fundamental, structural, and functional unit of living organisms.

2. A small, more or less closed space.

neuroglial cells - The cells of the supportive tissue of the central nervous system (neuroglia); these non-neural cells are of three kinds: astrocytes, oligodendrocytes (collectively termed macroglia) and microglia.

reticular cells - The cells forming the reticular fibers of connective tissue; those forming the framework of lymph nodes, bone marrow, and spleen are part of the reticuloendothelial system and under appropriate stimulation may differentiate into macrophages.

stem cell - 1. Any precursor cell.

2. A blood cell progenitor, or mother cell, having the capacity for both replication and differentiation, and giving rise to various morphologically recognizable precursors of different blood cell lines, such as the proerythrocyte and myeloblast, which cannot self-replicate and must differentiate into more mature daughter cells.

immunoglobulins

DEFINITION:

Proteins found in the blood serum and in tissue fluids, also known as antibodies . Immunoglobulins are produced by cells of the immune system called B-lymphocytes. Their function is to bind to substances in the body that are recognized as foreign antigens (often proteins on the surface of bacteria and viruses). This binding is a crucial event in the destruction of the microorganisms that bear the antigens. Immunoglobulins also play a central role in allergies and hypersensitivity reactions. In this case they bind to antigens that are not necessarily a threat to health, which may provide an inflammatory reaction.

There are five classes of immunoglobulins; of these, immunoglobulin G (IgG) is the major immunoglobulin in blood serum (See below). Immunoglobulins can be extracted from blood of recovering patients and used for passive immunization against certain infectious diseases.

IgG immunoglobulin - The IgG molecule consists of two parts, one of which binds to antigen; the other binds to other cells of the immune system. These other cells are principally white cells called phagocytes, which then engulf the microorganisms bearing the antigen. The antigen-binding site of the IgG molecule is variable in its structure, the different versions of the molecule being capable of binding to an almost infinite number of antigens.

Immunoglobulin G - See IgG immunoglobulin above.

numerous

DEFINITION:

Consisting of, including, or relating to a great number; many.

pathological

DEFINITION:

Pertaining to pathology.

postulate

DEFINITION:

Anything assumed or taken for granted.

V2 vasopressin receptor

DEFINITION:

The molecular structure within a cell or on the surface to which the antidiuretic hormone, arginine vasopressin binds.

AVPR2

DEFINITION:

Arginine-vasopressin receptor 2 gene.

gene mutations

DEFINITION:

Permanent transmissible changes in the genetic material, usually in a single gene.

nephrogenic diabetes insipidus

DEFINITION:

A syndrome of polyuria and hyposthenuria caused by the failure of the renal tubules to reabsorb water in response to antidiuretic hormone, without disturbance in the renal filtration and solute excretion rates; the condition does not respond to exogenous vasopressin. It may be inherited as a rare X-linked trait or be acquired as a result of drug therapy or systemic disease.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

mutations

DEFINITION:

1. Changes in form, quality, or some other characteristic.

cell surface

DEFINITION:

See plasma membrane.

mutation

DEFINITION:

1. A change in form, quality, or some other characteristic.

2. In genetics, a permanent transmissible change in the genetic material, usually in a single gene.

frameshift mutation - A mutation resulting from an addition or subtraction that is not an exact multiple of 3 base pairs in a coding sequence. From the point of mutation onwards, base triplets (codons) are read out of phase; the reading frame of the gene is changed, and a completely different set of amino acids is made into protein.

loss-of-function mutation - Impairment of the function of a gene caused by mutation.

missense mutation - A mutation that changes a codon so that it codes for a different amino acid.

nonsense mutation - A mutation in which one of the three terminator codons in the mRNA (UAG, amber; UAA, ochre; UGA, umber or opal), used to signal the end of a polypeptide, appears in the middle of a genetic message, causes premature termination of transcription, and releases incomplete, generally nonfunctional polypeptides from the ribosome.

point mutation - A mutation resulting from a change in a single base pair in the DNA molecule, caused by the substitution of one nucleotide for another.

cell surface

DEFINITION:

See plasma membrane.

bind

DEFINITION:

To form a weak, reversible chemical bond, e.g., antigen to antibody or hormone to receptor.

antidiuretic hormone

DEFINITION:

See vasopressin.

vasopressin

DEFINITION:

1. One of two octapeptide hormones formed by the neuronal cells of the hypothalamic nuclei and stored in the posterior lobe of the pituitary gland (neurohypophysis), the other being oxytocin. It stimulates the contraction of the muscular tissue of the capillaries and arterioles, raising the blood pressure. It promotes contraction of the intestinal musculature and increases peristalsis, and also exerts some contractile influence on the uterus. It also has a specific effect on the epithelial cells of the distal portion of the uriniferous tubule, augmenting resorption of water independently of solutes, resulting in concentration of urine and dilution of blood serum. Its rate of secretion is regulated chiefly by the osmolarity of the plasma.

2. [USP], A pharmaceutical preparation of the same principle, prepared synthetically or obtained from the posterior pituitary of healthy domestic animals used for food by man; used mainly as an antidiuretic in the treatment of acute or chronic diabetes insipidus, administered intramuscularly as a test of hypothalamo-neurohypophysial-renal function in distinguishing central from nephrogenic diabetes insipidus; it may also be used to stimulate smooth muscle tissue, especially to induce vasoconstriction in the presence of hemorrhage. Called also antidiuretic hormone (ADH).

VP

DEFINITION:

Abbreviation for vasopressin.

affinity

DEFINITION:

1. A special attraction for a specific element, organ, or structure.

2. Chemical affinity.

3. In immunology, a thermodynamic expression of the strength of interaction between a single antigen-binding site and a single antigenic determinant (and thus of the stereochemical compatibility between them), most accurately applied to interactions among simple, uniform antigenic determinants such as haptens. Expressed as the association constant (K liters mole^-1), which, owing to the heterogeneity of affinities in a population of antibody molecules of a given specificity, actually represents an average value (mean intrinsic association constant).

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

deletion

DEFINITION:

In genetics, the loss of any portion of the genetic material on a chromosome, ranging from loss of a single nucleotide within, which can throw the reading frame out of register and cause a frameshift mutation if it is within a coding sequence, to loss of part or all of a gene, to loss of a microscopically visible portion of the chromosome, possibly involving multiple genes.

AVPR2 gene

DEFINITION:

Arginine-vasopressin receptor 2 gene.

X chromosome

DEFINITION:

The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in man and other male-heterogametic species.

locus

DEFINITION:

1. A general anatomical term for a site in the body.
2. In genetics, the position of a gene on a chromosome, different forms of genes (alleles) being found at the same position on homologous chromosomes.

X chromosome

DEFINITION:

The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in man and other male-heterogametic species.

encodes

DEFINITION:

Converts (a message, information, etc.) into code.

protein

DEFINITION:

Any of a group of complex organic compounds which contain carbon, hydrogen, oxygen, nitrogen, and usually sulfur, the characteristic element being nitrogen, and which are widely distributed in plants and animals. Proteins, the principal constituents of the protoplasm of all cells, are of high molecular weight and consist essentially of combinations of a-amino acids in peptide linkages. Twenty different amino acids are commonly found in proteins, and each protein has a unique, genetically defined amino acid sequence which determines its specific shape and function. They serve as enzymes, structural elements, hormones, immunoglobulins, etc., and are involved in oxygen transport, muscle contraction, electron transport, and other activities throughout the body, and in photosynthesis.

binding protein - any of a number of plasma proteins (See below) that bind to hormones of low solubility (chiefly the thyroid and steroid hormones), thus providing a transport system for them; some are specific for particular hormones, while others bind to any sparingly soluble hormones. Called also carrier protein or transport protein (See below).

carrier proteins - A binding protein (See above).

plasma proteins - The hundreds of different proteins present in blood plasma, including carrier proteins (such as albumin, transferrin, and haptoglobin), fibrinogen and other coagulation factors, complement components, immunoglobulins, enzyme inhibitors, precursors of substances such as angiotensin and bradykinin, and many other types of proteins.

transport protein - binding protein (See above).

expressed

DEFINITION:

1. Showing a detectable effect of a gene.

2. Made known; shown.

3. Squeezed out; extracted by pressing.

blood cells

DEFINITION:

One of the formed elements of the blood; a leukocyte, erythrocyte, or platelet. Called also blood corpuscle, hemacyte, hematocyte, and hemocyte.

pathology

DEFINITION:

1. The study of the essential nature of diseases and especially of the structural and functional changes produced by them.

2. Something abnormal.

therapeutic

DEFINITION:

A term meaning "related to treatment." The therapeutic dose of a drug is the amount required to have a beneficial effect.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.