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Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.
Leptin is a hormone predominantly made by adipose cells and enterocytes in the small intestine that helps to regulate energy balance by inhibiting hunger, which in turn diminishes fat storage in adipocytes. Leptin is coded for by the LEP gene. Leptin acts on cell receptors in the arcuate and ventromedial nuclei, as well as other parts of the hypothalamus and dopaminergic neurons of the ventral tegmental area, consequently mediating feeding.
Fat mass and obesity-associated protein also known as alpha-ketoglutarate-dependent dioxygenase FTO is an enzyme that in humans is encoded by the FTO gene located on chromosome 16. As one homolog in the AlkB family proteins, it is the first mRNA demethylase that has been identified. Certain alleles of the FTO gene appear to be correlated with obesity in humans.
Leptin receptor, also known as LEP-R or OB-R, is a type I cytokine receptor, a protein that in humans is encoded by the LEPR gene. LEP-R functions as a receptor for the fat cell-specific hormone leptin. LEP-R has also been designated as CD295. Its location is the cell membrane, and it has extracellular, trans-membrane and intracellular sections.
X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the RPGR gene. The gene is located on the X-chromosome and is commonly associated with X-linked retinitis pigmentosa (XLRP). In photoreceptor cells, RPGR is localized in the connecting cilium which connects the protein-synthesizing inner segment to the photosensitive outer segment and is involved in the modulation of cargo trafficked between the two segments.
The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development. Proper cerebellar and cortical development in the human brain depends heavily on AHI1. The AHI1 gene is prominently expressed in the embryonic hindbrain and forebrain. AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce. AHI1 has also been associated with schizophrenia and autism due to the role it plays in brain development. An AHI1 heterozygous knockout mouse model was studied by Bernard Lerer and his group at Hadassah Medical Center in Jerusalem to elucidate the correlation between alterations in AHI1 expression and the pathogenesis of neuropsychiatric disorders. The core temperatures and corticosterone secretions of the heterozygous knockout mice after exposure to environmental and visceral stress exhibited extreme repression of autonomic nervous system and hypothalamic-pituitary-adrenal responses. The knockout mice demonstrated an increased resilience to different types of stress and these results lead to a correlation between emotional regulation and neuropsychiatric disorders.
Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of chromosome 12.
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 is a protein in the ciliary transition zone that in humans is encoded by the RPGRIP1 gene. RPGRIP1 is a multi-domain protein containing a coiled-coil domain at the N-terminus, two C2 domains and a C-terminal RPGR-interacting domain (RID). Defects in the gene result in the Leber congenital amaurosis (LCA) syndrome and in the eye disease glaucoma.
Inversin is a protein that in humans is encoded by the INVS gene.
Adipose tissue is an endocrine organ that secretes numerous protein hormones, including leptin, adiponectin, and resistin. These hormones generally influence energy metabolism, which is of great interest to the understanding and treatment of type 2 diabetes and obesity.
A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function. Primary cilia are important in guiding the process of development, so abnormal ciliary function while an embryo is developing can lead to a set of malformations that can occur regardless of the particular genetic problem. The similarity of the clinical features of these developmental disorders means that they form a recognizable cluster of syndromes, loosely attributed to abnormal ciliary function and hence called ciliopathies. Regardless of the actual genetic cause, it is clustering of a set of characteristic physiological features which define whether a syndrome is a ciliopathy.
Hydrolethalus syndrome (HLS) is a rare genetic disorder that causes improper fetal development, resulting in birth defects and, most commonly, stillbirth.
Like many other medical conditions, obesity is the result of an interplay between environmental and genetic factors. Studies have identified variants in several genes that may contribute to weight gain and body fat distribution; although, only in a few cases are genes the primary cause of obesity.
ADP-ribosylation factor-like protein 13B (ARL13B), also known as ADP-ribosylation factor-like protein 2-like 1, is a protein that in humans is encoded by the ARL13B gene.
72 kDa inositol polyphosphate 5-phosphatase, also known as phosphatidylinositol-4,5-bisphosphate 5-phosphatase or Pharbin, is an enzyme that in humans is encoded by the INPP5E gene.
Xaa-Pro aminopeptidase 3, also known as aminopeptidase P3, is an enzyme that in humans is encoded by the XPNPEP3 gene. XPNPEP3 localizes to mitochondria in renal cells and to kidney tubules in a cell type-specific pattern. Mutations in XPNPEP3 gene have been identified as a cause of a nephronophthisis-like disease.
The BBSome is an octameric protein complex. It is a component of the basal body and is involved in trafficking cargos to the primary cilium. The BBSome is a complex of seven Bardet–Biedl syndrome (BBS) proteins: BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. In addition the BBSome contains the BBIP10 protein. Mutation in each of this eight BBSome genes causes a severe multiorganic syndrome (BBS) presenting in most cases by retinal dystrophy, obesity, renal anomalies, post-axial polydactyly, and developmental delay.
Rudolph Leibel is the Christopher J. Murphy Professor of Diabetes Research, Professor of Pediatrics and Medicine at Columbia University Medical Center, and Director of the Division of Molecular Genetics in the Department of Pediatrics. He is also Co-Director of the Naomi Berrie Diabetes Center and Executive Director of the Russell and Angelica Berrie Program in Cellular Therapy, Co-Director of the New York Obesity Research Center and the Columbia University Diabetes and Endocrinology Research Center.
Ismaa Sadaf Farooqi is a Wellcome Trust Senior Research fellow in Clinical Science, professor of Metabolism and Medicine at the University of Cambridge and a consultant physician at Addenbrooke's Hospital in Cambridge, UK.
CUX1 is an animal gene. The name stands for Cut like homeobox 1. The term "cut" derives from the "cut wing" phenotype observed in a mutant of Drosophila melanogaster. In mammals, a CCAAT-displacement activity was originally described in DNA binding assays. The human gene was identified following purification of the CCAAT-displacement protein (CDP) and has been successively been called CDP, Cut-like 1 (CUTL1), CDP/Cut and finally, CUX1.. Cut homeobox genes are present in all metazoans. In mammals, CUX1 is expressed ubiquitously in all tissues. A second gene, called CUX2, is expressed primarily in neuronal cells.
References
- ↑ Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (February 1999). "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research . 6 (1): 63–70. doi: 10.1093/dnares/6.1.63 . PMID 10231032.
- 1 2 Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S (July 2007). "The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome". Nature Genetics . 39 (7): 875–81. doi:10.1038/ng2039. PMID 17558409. S2CID 6982566.
- ↑ Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R (July 2007). "Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome". Nature Genetics . 39 (7): 882–8. doi:10.1038/ng2069. PMID 17558407. S2CID 12910768.
- ↑ Assis LH, et al. (2017). "The molecular motor Myosin Va interacts with the cilia-centrosomal protein RPGRIP1L". Sci. Rep. 7: 43692. Bibcode:2017NatSR...743692A. doi: 10.1038/srep43692 . PMC 5339802 . PMID 28266547.
- ↑ Devuyst O, Arnould VJ (May 2008). "Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies". Nephrol. Dial. Transplant. 23 (5): 1500–3. doi: 10.1093/ndt/gfn033 . PMID 18281315.
- ↑ Gene Overview of All Published Schizophrenia-Association Studies for RPGRIP1L – SzGene database at Schizophrenia Research Forum.
- ↑ Hoffmann, Thomas J; Choquet, Hélène; Yin, Jie; Banda, Yambazi; Kvale, Mark N; Glymour, Maria; Schaefer, Catherine; Risch, Neil; Jorgenson, Eric (2018-10-01). "A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci". Genetics. 210 (2): 499–515. doi:10.1534/genetics.118.301479. ISSN 1943-2631. PMC 6216593 . PMID 30108127.
- ↑ Turcot, Valérie; Lu, Yingchang; Highland, Heather M.; Schurmann, Claudia; Justice, Anne E.; Fine, Rebecca S.; Bradfield, Jonathan P.; Esko, Tõnu; Giri, Ayush; Graff, Mariaelisa; Guo, Xiuqing (January 2018). "Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity". Nature Genetics. 50 (1): 26–41. doi:10.1038/s41588-017-0011-x. ISSN 1546-1718. PMC 5945951 . PMID 29273807.
- ↑ Stratigopoulos, George; Leibel, Rudolph L. (December 2010). "FTO gains function". Nature Genetics. 42 (12): 1038–1039. doi:10.1038/ng1210-1038. ISSN 1546-1718. PMC 3818900 . PMID 21102620.
- 1 2 Stratigopoulos, George; Martin Carli, Jayne F.; O’Day, Diana R.; Wang, Liheng; LeDuc, Charles A.; Lanzano, Patricia; Chung, Wendy K.; Rosenbaum, Michael; Egli, Dieter; Doherty, Daniel A.; Leibel, Rudolph L. (May 2014). "Hypomorphism for RPGRIP1L, a Ciliary Gene Vicinal to the FTO Locus, Causes Increased Adiposity in Mice". Cell Metabolism. 19 (5): 767–779. doi:10.1016/j.cmet.2014.04.009. ISSN 1550-4131. PMC 4131684 . PMID 24807221.
- ↑ Stratigopoulos, George; Burnett, Lisa Cole; Rausch, Richard; Gill, Richard; Penn, David Barth; Skowronski, Alicja A.; LeDuc, Charles A.; Lanzano, Anthony J.; Zhang, Pumin; Storm, Daniel R.; Egli, Dieter (2016-05-02). "Hypomorphism of Fto and Rpgrip1l causes obesity in mice". The Journal of Clinical Investigation. 126 (5): 1897–1910. doi:10.1172/JCI85526. ISSN 0021-9738. PMC 4855930 . PMID 27064284.
- 1 2 Wang, Liheng; Solis, Alain J. De; Goffer, Yossef; Birkenbach, Kathryn E.; Engle, Staci E.; Tanis, Ross; Levenson, Jacob M.; Li, Xueting; Rausch, Richard; Purohit, Manika; Lee, Jen-Yi (2019-02-07). "Ciliary gene RPGRIP1L is required for hypothalamic arcuate neuron development". JCI Insight. 4 (3). doi:10.1172/jci.insight.123337. ISSN 0021-9738. PMC 6413800 . PMID 30728336.
- ↑ Stratigopoulos, George; LeDuc, Charles A.; Cremona, Maria L.; Chung, Wendy K.; Leibel, Rudolph L. (January 2011). "Cut-like Homeobox 1 (CUX1) Regulates Expression of the Fat Mass and Obesity-associated and Retinitis Pigmentosa GTPase Regulator-interacting Protein-1-like (RPGRIP1L) Genes and Coordinates Leptin Receptor Signaling". Journal of Biological Chemistry. 286 (3): 2155–2170. doi: 10.1074/jbc.m110.188482 . ISSN 0021-9258. PMC 3023512 . PMID 21037323.
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