The human gene for Oxytocin-neurophysin I (OXT) is physically mapped to chromosome 20p13 by in situ hybridization

Rao, V.V.N. Gopal; Löffler, Christiane; Battey, James F.; Hansmann, I.

doi:10.1159/000133420

Cited by 75 publications

(31 citation statements)

References 6 publications

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“…En route to the neurohypophysis, the precursor is processed into the active hormone. Prepro-vasopressin has 164 amino acids and is encoded by the 2.5-kb AVP gene located in chromosome region 20p13 (8,9). The AVP gene (coding for AVP and neurophysin II) and the OXT gene (coding for oxytocin and neurophysin I) are located in the same chromosome region, at a very short distance from each other (12 kb in humans) in head-to-head orientation.…”

Section: Avpmentioning

confidence: 99%

Molecular Biology of Hereditary Diabetes Insipidus

Fujiwara

Bichet

2005

Journal of the American Society of Nephrology

223

150

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A nyone who passes large volumes of urine might be said to be experiencing diabetes insipidus. Years ago, the initial distinction made by physicians in evaluating patients with polyuria was whether their urine was sweet (diabetes mellitus) or not (diabetes insipidus) (1). Diabetes insipidus is a disorder characterized by the excretion of abnormally large volumes (Ͼ30 ml/kg body wt/d for adults) of dilute urine (Ͻ250 mmol/kg). This definition excludes osmotic diuresis, which occurs when excess solute is being excreted, for example, glucose in the polyuria of diabetes mellitus. Four basic defects can be involved: (1) deficient secretion of the antidiuretic hormone arginine vasopressin (AVP), which is the most common defect and is referred to as neurohypophyseal (also known to as neurogenic, central, or hypothalamic) diabetes insipidus; (2) renal insensitivity to the antidiuretic effect of AVP, which is known as nephrogenic diabetes insipidus (NDI); (3) excessive water intake that can result in polyuria, which is referred to as primary polydipsia; and (4) increased metabolism of vasopressin during pregnancy, which is referred to as gestational diabetes insipidus. The hereditary forms of diabetes insipidus account for Ͻ10% of the cases of diabetes insipidus seen in clinical practice. The purpose of this review is to examine recent developments in the understanding and molecular biology of the hereditary forms of diabetes insipidus. Here we use the gene symbols approved by the HUGO Gene Nomenclature Committee (http://www.gene.ucl.ac.uk/nomenclature) and provide OMIM entry numbers (2). Not included in this review are acquired forms of NDI; for further information, see references 3-5. Genes Involved in "Pure" Diabetes Insipidus AVPThe regulation of the release of AVP from the posterior pituitary is primarily dependent, under normal circumstances, on tonicity information relayed by osmoreceptor cells in the anterior hypothalamus (6). AVP and its corresponding carrier, neurophysin II, are synthesized as a composite precursor by the magnocellular neurons of the supraoptic and paraventricular nuclei of the hypothalamus (for review, see 7). The precursor is packaged into neurosecretory granules and transported axonally in the stalk of the posterior pituitary. En route to the neurohypophysis, the precursor is processed into the active hormone. Prepro-vasopressin has 164 amino acids and is encoded by the 2.5-kb AVP gene located in chromosome region 20p13 (8,9). The AVP gene (coding for AVP and neurophysin II) and the OXT gene (coding for oxytocin and neurophysin I) are located in the same chromosome region, at a very short distance from each other (12 kb in humans) in head-to-head orientation. Data from transgenic mouse studies indicate that the intergenic region between the OXT and the AVP genes contains the critical enhancer sites for cell-specific expression in the magnocellular neurons (7). It is phylogenetically interesting to note that cis and trans components of this specific cellular expression have been conserved bet...

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Section: Avpmentioning

confidence: 99%

Molecular Biology of Hereditary Diabetes Insipidus

Fujiwara

Bichet

2005

Journal of the American Society of Nephrology

223

150

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“…One gene that influences the oxytocin signaling pathway is OXT. OXT is located on chromosome 20p13 and codes for a precursor protein that is synthetized to produce oxytocin and neurophysin I (8,9). OXT knockout mice (Oxt −/− ) show aberrations in social behavior (10,11).…”

mentioning

confidence: 99%

Epigenetic modification ofOXTand human sociability

Haas

Filkowski

Cochran

et al. 2016

Proc. Natl. Acad. Sci. U.S.A.

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Across many mammalian species there exist genetic and biological systems that facilitate the tendency to be social. Oxytocin is a neuropeptide involved in social-approach behaviors in humans and others mammals. Although there exists a large, mounting body of evidence showing that oxytocin signaling genes are associated with human sociability, very little is currently known regarding the way the structural gene for oxytocin (OXT) confers individual differences in human sociability. In this study, we undertook a comprehensive approach to investigate the association between epigenetic modification of OXT via DNA methylation, and overt measures of social processing, including self-report, behavior, and brain function and structure. Genetic data were collected via saliva samples and analyzed to target and quantify DNA methylation across the promoter region of OXT. We observed a consistent pattern of results across sociability measures. People that exhibit lower OXT DNA methylation (presumably linked to higher OXT expression) display more secure attachment styles, improved ability to recognize emotional facial expressions, greater superior temporal sulcus activity during two social-cognitive functional MRI tasks, and larger fusiform gyrus gray matter volume than people that exhibit higher OXT DNA methylation. These findings provide empirical evidence that epigenetic modification of OXT is linked to several overt measures of sociability in humans and serve to advance progress in translational social neuroscience research toward a better understanding of the evolutionary and genetic basis of normal and abnormal human sociability.ociability is a central feature of the human species. Through one perspective, the complex array of human social-cognition and behavior serves to differentiate humans from other animals. However, there exist several core elemental components of the human sociobiological system that are present across many animal species, which may have remained relatively conserved throughout recent evolutionary history (1). Elucidating the genetic and biological substrates of social behavior serves to advance the way basic human nature is understood and improves the way genetic and biological markers can be used to prevent, diagnose, and treat people with impairments in social cognition and behavior.Oxytocin is a neurohypophysial peptide synthesized in the hypothalamus in the brain, linked to a wide range of social behaviors in humans and other mammals. Administration of oxytocin in humans is associated with changes in social-approach behaviors, such as trust (2) and personal proximity (3). This evidence has motivated the search for genes within the oxytocin system that confer individual differences in social behavior and cognition. A burgeoning body of evidence highlights the role of several key genes within the oxytocin signaling pathway linked to sociability, including the oxytocin receptor gene (OXTR), CD38, and the structural gene for oxytocin (OXT) (4). Although mounting data strongly support the role of ...

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“…The result of enzymatic cleavage are intermediate forms containing 10, 11, or 12 amino acids, collectively referred to as carboxy-extended forms of OT (OT-X), and oxytocin (Gabreels et al, 1998;Gainer et al, 1995;Mitchell et al, 1998;Rao et al, 1992). In 5.8-to 11.5-year-old autistic individuals, reduced plasma OT level, deficits in OT prohormone Type, Topography, and Seque lae of Neuropathological Changes 15 processing (increase in OT-X), and an increase in the ratio of C-terminal extended forms to OT were found .…”

Section: Social Attachment-th E R O Le Of the H Ypothalamus In B Ehavmentioning

confidence: 99%

Characterization of the of the Pathological and Biochemical Markers That Correlate to the Clinical Features of Autism. Subproject 2. Contribution of Significant Delay of Neuronal Development and Metabolic Shift of Neurons to Clinical Phenotype of Autism

Węgiel¹,

Brown²

2013

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The human gene for Oxytocin-neurophysin I (OXT) is physically mapped to chromosome 20p13 by in situ hybridization

Cited by 75 publications

References 6 publications

Molecular Biology of Hereditary Diabetes Insipidus

Molecular Biology of Hereditary Diabetes Insipidus

Epigenetic modification ofOXTand human sociability

Characterization of the of the Pathological and Biochemical Markers That Correlate to the Clinical Features of Autism. Subproject 2. Contribution of Significant Delay of Neuronal Development and Metabolic Shift of Neurons to Clinical Phenotype of Autism

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