DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor protein that in humans is encoded by the NR0B1gene (nuclear receptor subfamily 0, group B, member 1).[5][6][7] The NR0B1 gene is located on the short (p) arm of the X chromosome between bands Xp21.3 and Xp21.2, from base pair 30,082,120 to base pair 30,087,136.
This gene encodes a protein that lacks the normal DNA-binding domain contained in other nuclear receptors.[8] The encoded protein acts as a dominant-negative regulator of transcription of other nuclear receptors including steroidogenic factor 1.[9] This protein also functions as an anti-testis gene by acting antagonistically to SRY. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.[5]
DAX1 plays an important role in the normal development of several hormone-producing tissues. These tissues include the adrenal glands above each kidney, the pituitary gland and hypothalamus, which are located in the brain, and the reproductive structures (the testes and ovaries). DAX1 controls the activity of certain genes in the cells that form these tissues during embryonic development. Proteins that control the activity of other genes are known as transcription factors. DAX1 also plays a role in regulating hormone production in these tissues after they have been formed.
Role in diseaseEdit
X-linked adrenal hypoplasia congenita is caused by mutations in the NR0B1 gene. More than 90 NR0B1 mutations that cause X-linked adrenal hypoplasia congenita have been identified. Many of these mutations delete all or part of the NR0B1 gene, preventing the production of DAX1 protein. Some mutations cause the production of an abnormally short protein. Other mutations cause a change in one of the building blocks (amino acids) of DAX1. These mutations are thought to result in a misshapen, nonfunctional protein. Loss of DAX1 function leads to adrenal insufficiency and hypogonadotropic hypogonadism,[10] which are the main characteristics of this disorder.
Duplication of genetic material on the X chromosome in the region that contains the NR0B1 gene can cause a condition called dosage-sensitive sex reversal. The extra copy of the NR0B1 gene prevents the formation of male reproductive tissues. People who have this duplication usually appear to be female, but are genetically male with both an X and a Y chromosome.
In some cases, genetic material is deleted from the X chromosome in a region that contains several genes, including NR0B1. This deletion results in a condition called adrenal hypoplasia congenita with complex glycerol kinase deficiency. In addition to the signs and symptoms of adrenal hypoplasia congenita, individuals with this condition may have elevated levels of lipids in their blood and urine and may have problems regulating blood sugar levels. In rare cases, the amount of genetic material deleted is even more extensive and affected individuals also have Duchenne muscular dystrophy.
^ abcGRCh38: Ensembl release 89: ENSG00000169297 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000025056 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ab"Entrez Gene: NR0B1 nuclear receptor subfamily 0, group B, member 1".
^Walker AP, Chelly J, Love DR, Brush YI, Récan D, Chaussain JL, Oley CA, Connor JM, Yates J, Price DA (Nov 1992). "A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes" (PDF). Human Molecular Genetics. 1 (8): 579–85. doi:10.1093/hmg/1.8.579. PMID 1301166.
^Goodfellow PN, Camerino G (Jun 1999). "DAX-1, an 'antitestis' gene". Cellular and Molecular Life Sciences. 55 (6–7): 857–63. doi:10.1007/PL00013201. PMID 10412368. S2CID 19764423.
^McCabe ER (Feb 2007). "DAX1: Increasing complexity in the roles of this novel nuclear receptor". Molecular and Cellular Endocrinology. 265–266: 179–82. doi:10.1016/j.mce.2006.12.017. PMC1847396. PMID 17210221.
^Iyer AK, McCabe ER (2004). "Molecular mechanisms of DAX1 action". Molecular Genetics and Metabolism. 83 (1–2): 60–73. doi:10.1016/j.ymgme.2004.07.018. PMID 15464421.
^Tab. 1.1 of Stefan White & Andrew Sinclair: The Molecular Basis of Gonadal Development and Disorders of Sex Development, in: John M. Hutson, Garry L. Warne, & Sonia R. Grover (eds): Disorders of Sex Development. An Integrated Approach to Management, Springer 2012, ISBN978-3-642-22963-3, e-ISBN978-3-642-22964-0, DOI: 10.1007/978-3-642-22964-0.
^Altincicek B, Tenbaum SP, Dressel U, Thormeyer D, Renkawitz R, Baniahmad A (Mar 2000). "Interaction of the corepressor Alien with DAX-1 is abrogated by mutations of DAX-1 involved in adrenal hypoplasia congenita". The Journal of Biological Chemistry. 275 (11): 7662–7. doi:10.1074/jbc.275.11.7662. PMID 10713076.
^ abSugawara T, Abe S, Sakuragi N, Fujimoto Y, Nomura E, Fujieda K, Saito M, Fujimoto S (Aug 2001). "RIP 140 modulates transcription of the steroidogenic acute regulatory protein gene through interactions with both SF-1 and DAX-1". Endocrinology. 142 (8): 3570–7. doi:10.1210/endo.142.8.8309. PMID 11459805.
^ abLopez D, Shea-Eaton W, Sanchez MD, McLean MP (Dec 2001). "DAX-1 represses the high-density lipoprotein receptor through interaction with positive regulators sterol regulatory element-binding protein-1a and steroidogenic factor-1". Endocrinology. 142 (12): 5097–106. doi:10.1210/endo.142.12.8523. PMID 11713202.
Further readingEdit
Achermann JC, Meeks JJ, Jameson JL (Dec 2001). "Phenotypic spectrum of mutations in DAX-1 and SF-1". Molecular and Cellular Endocrinology. 185 (1–2): 17–25. doi:10.1016/S0303-7207(01)00619-0. PMID 11738790. S2CID 20651430.
Franzese A, Brunetti-Pierri N, Spagnuolo MI, Spadaro R, Giugliano M, Mukai T, Valerio G (May 2005). "Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene". American Journal of Medical Genetics Part A. 135 (1): 72–4. doi:10.1002/ajmg.a.30670. PMID 15800903. S2CID 39583218.
Achermann JC (Jun 2005). "The role of SF1/DAX1 in adrenal and reproductive function". Annales d'Endocrinologie. 66 (3): 233–9. doi:10.1016/s0003-4266(05)81755-x. PMID 15988384.
Niakan KK, McCabe ER (2006). "DAX1 origin, function, and novel role". Molecular Genetics and Metabolism. 86 (1–2): 70–83. doi:10.1016/j.ymgme.2005.07.019. PMID 16146703.
Worley KC, Towbin JA, Zhu XM, Barker DF, Ballabio A, Chamberlain J, Biesecker LG, Blethen SL, Brosnan P, Fox JE (Aug 1992). "Identification of new markers in Xp21 between DXS28 (C7) and DMD" (PDF). Genomics. 13 (4): 957–61. doi:10.1016/0888-7543(92)90007-F. hdl:2027.42/29935. PMID 1505987.
Petersen KE, Bille T, Jacobsen BB, Iversen T (Nov 1982). "X-linked congenital adrenal hypoplasia. A study of five generations of a Greenlandic Family". Acta Paediatrica Scandinavica. 71 (6): 947–51. doi:10.1111/j.1651-2227.1982.tb09554.x. PMID 6891556. S2CID 43416274.
Burris TP, Guo W, Le T, McCabe ER (Sep 1995). "Identification of a putative steroidogenic factor-1 response element in the DAX-1 promoter". Biochemical and Biophysical Research Communications. 214 (2): 576–81. doi:10.1006/bbrc.1995.2324. PMID 7677767.
Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, Chiumello G, McCabe ER, Fraccaro M (Aug 1994). "A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal". Nature Genetics. 7 (4): 497–501. doi:10.1038/ng0894-497. PMID 7951319. S2CID 20673267.
Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, Guo W, Lalli E, Moser C, Walker AP, McCabe ER (Dec 1994). "An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita". Nature. 372 (6507): 635–41. Bibcode:1994Natur.372..635Z. doi:10.1038/372635a0. PMID 7990953. S2CID 4363344.
Muscatelli F, Strom TM, Walker AP, Zanaria E, Récan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W (Dec 1994). "Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism". Nature. 372 (6507): 672–6. Bibcode:1994Natur.372..672M. doi:10.1038/372672a0. PMID 7990958. S2CID 4314671.
Guo W, Burris TP, McCabe ER (Oct 1995). "Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis". Biochemical and Molecular Medicine. 56 (1): 8–13. doi:10.1006/bmme.1995.1049. PMID 8593542.
Yanase T, Takayanagi R, Oba K, Nishi Y, Ohe K, Nawata H (Feb 1996). "New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism". The Journal of Clinical Endocrinology and Metabolism. 81 (2): 530–5. doi:10.1210/jcem.81.2.8636263. PMID 8636263.
Guo W, Burris TP, Zhang YH, Huang BL, Mason J, Copeland KC, Kupfer SR, Pagon RA, McCabe ER (Jul 1996). "Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism". The Journal of Clinical Endocrinology and Metabolism. 81 (7): 2481–6. doi:10.1210/jcem.81.7.8675564. PMID 8675564.
Nakae J, Tajima T, Kusuda S, Kohda N, Okabe T, Shinohara N, Kato M, Murashita M, Mukai T, Imanaka K, Fujieda K (Oct 1996). "Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita". The Journal of Clinical Endocrinology and Metabolism. 81 (10): 3680–5. doi:10.1210/jcem.81.10.8855822. PMID 8855822.
Schwartz M, Blichfeldt S, Müller J (Jan 1997). "X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis". Human Genetics. 99 (1): 83–7. doi:10.1007/s004390050316. PMID 9003500. S2CID 31266597.
Takahashi T, Shoji Y, Shoji Y, Haraguchi N, Takahashi I, Takada G (Mar 1997). "Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita". The Journal of Pediatrics. 130 (3): 485–8. doi:10.1016/S0022-3476(97)70217-8. PMID 9063431.
Nakae J, Abe S, Tajima T, Shinohara N, Murashita M, Igarashi Y, Kusuda S, Suzuki J, Fujieda K (Nov 1997). "Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita". The Journal of Clinical Endocrinology and Metabolism. 82 (11): 3835–41. doi:10.1210/jcem.82.11.4342. PMID 9360549.
Zazopoulos E, Lalli E, Stocco DM, Sassone-Corsi P (Nov 1997). "DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis". Nature. 390 (6657): 311–5. Bibcode:1997Natur.390..311Z. doi:10.1038/36899. PMID 9384387. S2CID 4417467.
External linksEdit
GeneReviews/NCBI/NIH/UW entry on 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis
OMIM entries on 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis
GeneReviews/NIH/NCBI/UW entry on X-Linked Adrenal Hypoplasia Congenita including Complex Glycerol Kinase Deficiency
GeneCard for NR0B1
August 28, 2023
dax1, dosage, sensitive, reversal, adrenal, hypoplasia, critical, region, chromosome, gene, nuclear, receptor, protein, that, humans, encoded, nr0b1, gene, nuclear, receptor, subfamily, group, member, nr0b1, gene, located, short, chromosome, between, bands, xp. DAX1 dosage sensitive sex reversal adrenal hypoplasia critical region on chromosome X gene 1 is a nuclear receptor protein that in humans is encoded by the NR0B1 gene nuclear receptor subfamily 0 group B member 1 5 6 7 The NR0B1 gene is located on the short p arm of the X chromosome between bands Xp21 3 and Xp21 2 from base pair 30 082 120 to base pair 30 087 136 NR0B1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes4RWVIdentifiersAliasesNR0B1 AHC AHCH AHX DAX 1 DAX1 DSS GTD HHG NROB1 SRXY2 nuclear receptor subfamily 0 group B member 1 Dax1External IDsOMIM 300473 MGI 1352460 HomoloGene 403 GeneCards NR0B1Gene location Human Chr X chromosome human 1 BandXp21 2Start30 304 206 bp 1 End30 309 390 bp 1 Gene location Mouse Chr X chromosome mouse 2 BandX C1 X 39 67 cMStart85 235 370 bp 2 End85 239 553 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright adrenal glandleft adrenal glandislet of Langerhansgerminal epitheliumpancreatic ductal cellpituitary glandamygdalaanterior pituitaryhypothalamusvulvaTop expressed inseminiferous tubuleadrenal cortexovaryspermatocyteventromedial nucleusganglionic eminencearcuate nucleuspituitary glandmedian eminencespinal gangliaMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionprotein domain specific binding sequence specific DNA binding protein homodimerization activity RNA binding nuclear receptor activity AF 2 domain binding DNA binding DNA hairpin binding steroid hormone receptor activity protein binding transcription corepressor activity transcription factor binding DNA binding transcription factor activity RNA polymerase II specificCellular componentcytoplasm nucleus membrane polysomal ribosome nucleoplasm microtubule organizing center nuclear speck intracellular membrane bounded organelleBiological processsex determination system spermatogenesis negative regulation of DNA binding transcription factor activity transcription DNA templated response to immobilization stress pituitary gland development gonad development Leydig cell differentiation steroid hormone mediated signaling pathway transcription initiation from RNA polymerase II promoter protein localization hypothalamus development negative regulation of cell differentiation male sex determination Sertoli cell differentiation negative regulation of intracellular steroid hormone receptor signaling pathway regulation of transcription DNA templated cell differentiation steroid biosynthetic process male gonad development adrenal gland development negative regulation of transcription DNA templated intracellular receptor signaling pathway negative regulation of transcription by RNA polymerase IISources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez19011614EnsemblENSG00000169297ENSMUSG00000025056UniProtP51843Q61066RefSeq mRNA NM 000475NM 007430RefSeq protein NP 000466NP 000466 2NP 031456Location UCSC Chr X 30 3 30 31 MbChr X 85 24 85 24 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Role in disease 3 Interactions 4 References 5 Further reading 6 External linksFunction EditThis gene encodes a protein that lacks the normal DNA binding domain contained in other nuclear receptors 8 The encoded protein acts as a dominant negative regulator of transcription of other nuclear receptors including steroidogenic factor 1 9 This protein also functions as an anti testis gene by acting antagonistically to SRY Mutations in this gene result in both X linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism 5 DAX1 plays an important role in the normal development of several hormone producing tissues These tissues include the adrenal glands above each kidney the pituitary gland and hypothalamus which are located in the brain and the reproductive structures the testes and ovaries DAX1 controls the activity of certain genes in the cells that form these tissues during embryonic development Proteins that control the activity of other genes are known as transcription factors DAX1 also plays a role in regulating hormone production in these tissues after they have been formed Role in disease EditX linked adrenal hypoplasia congenita is caused by mutations in the NR0B1 gene More than 90 NR0B1 mutations that cause X linked adrenal hypoplasia congenita have been identified Many of these mutations delete all or part of the NR0B1 gene preventing the production of DAX1 protein Some mutations cause the production of an abnormally short protein Other mutations cause a change in one of the building blocks amino acids of DAX1 These mutations are thought to result in a misshapen nonfunctional protein Loss of DAX1 function leads to adrenal insufficiency and hypogonadotropic hypogonadism 10 which are the main characteristics of this disorder Duplication of genetic material on the X chromosome in the region that contains the NR0B1 gene can cause a condition called dosage sensitive sex reversal The extra copy of the NR0B1 gene prevents the formation of male reproductive tissues People who have this duplication usually appear to be female but are genetically male with both an X and a Y chromosome In some cases genetic material is deleted from the X chromosome in a region that contains several genes including NR0B1 This deletion results in a condition called adrenal hypoplasia congenita with complex glycerol kinase deficiency In addition to the signs and symptoms of adrenal hypoplasia congenita individuals with this condition may have elevated levels of lipids in their blood and urine and may have problems regulating blood sugar levels In rare cases the amount of genetic material deleted is even more extensive and affected individuals also have Duchenne muscular dystrophy Interactions EditDAX1 has been shown to interact with COPS2 11 NRIP1 12 Steroidogenic factor 1 12 13 and SREBF1 13 References Edit a b c GRCh38 Ensembl release 89 ENSG00000169297 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000025056 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b Entrez Gene NR0B1 nuclear receptor subfamily 0 group B member 1 Walker AP Chelly J Love DR Brush YI Recan D Chaussain JL Oley CA Connor JM Yates J Price DA Nov 1992 A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes PDF Human Molecular Genetics 1 8 579 85 doi 10 1093 hmg 1 8 579 PMID 1301166 Goodfellow PN Camerino G Jun 1999 DAX 1 an antitestis gene Cellular and Molecular Life Sciences 55 6 7 857 63 doi 10 1007 PL00013201 PMID 10412368 S2CID 19764423 McCabe ER Feb 2007 DAX1 Increasing complexity in the roles of this novel nuclear receptor Molecular and Cellular Endocrinology 265 266 179 82 doi 10 1016 j mce 2006 12 017 PMC 1847396 PMID 17210221 Iyer AK McCabe ER 2004 Molecular mechanisms of DAX1 action Molecular Genetics and Metabolism 83 1 2 60 73 doi 10 1016 j ymgme 2004 07 018 PMID 15464421 Tab 1 1 of Stefan White amp Andrew Sinclair The Molecular Basis of Gonadal Development and Disorders of Sex Development in John M Hutson Garry L Warne amp Sonia R Grover eds Disorders of Sex Development An Integrated Approach to Management Springer 2012 ISBN 978 3 642 22963 3 e ISBN 978 3 642 22964 0 DOI 10 1007 978 3 642 22964 0 Altincicek B Tenbaum SP Dressel U Thormeyer D Renkawitz R Baniahmad A Mar 2000 Interaction of the corepressor Alien with DAX 1 is abrogated by mutations of DAX 1 involved in adrenal hypoplasia congenita The Journal of Biological Chemistry 275 11 7662 7 doi 10 1074 jbc 275 11 7662 PMID 10713076 a b Sugawara T Abe S Sakuragi N Fujimoto Y Nomura E Fujieda K Saito M Fujimoto S Aug 2001 RIP 140 modulates transcription of the steroidogenic acute regulatory protein gene through interactions with both SF 1 and DAX 1 Endocrinology 142 8 3570 7 doi 10 1210 endo 142 8 8309 PMID 11459805 a b Lopez D Shea Eaton W Sanchez MD McLean MP Dec 2001 DAX 1 represses the high density lipoprotein receptor through interaction with positive regulators sterol regulatory element binding protein 1a and steroidogenic factor 1 Endocrinology 142 12 5097 106 doi 10 1210 endo 142 12 8523 PMID 11713202 Further reading EditAchermann JC Meeks JJ Jameson JL Dec 2001 Phenotypic spectrum of mutations in DAX 1 and SF 1 Molecular and Cellular Endocrinology 185 1 2 17 25 doi 10 1016 S0303 7207 01 00619 0 PMID 11738790 S2CID 20651430 Franzese A Brunetti Pierri N Spagnuolo MI Spadaro R Giugliano M Mukai T Valerio G May 2005 Inappropriate tall stature and renal ectopy in a male patient with X linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX 1 gene American Journal of Medical Genetics Part A 135 1 72 4 doi 10 1002 ajmg a 30670 PMID 15800903 S2CID 39583218 Achermann JC Jun 2005 The role of SF1 DAX1 in adrenal and reproductive function Annales d Endocrinologie 66 3 233 9 doi 10 1016 s0003 4266 05 81755 x PMID 15988384 Niakan KK McCabe ER 2006 DAX1 origin function and novel role Molecular Genetics and Metabolism 86 1 2 70 83 doi 10 1016 j ymgme 2005 07 019 PMID 16146703 Worley KC Towbin JA Zhu XM Barker DF Ballabio A Chamberlain J Biesecker LG Blethen SL Brosnan P Fox JE Aug 1992 Identification of new markers in Xp21 between DXS28 C7 and DMD PDF Genomics 13 4 957 61 doi 10 1016 0888 7543 92 90007 F hdl 2027 42 29935 PMID 1505987 Petersen KE Bille T Jacobsen BB Iversen T Nov 1982 X linked congenital adrenal hypoplasia A study of five generations of a Greenlandic Family Acta Paediatrica Scandinavica 71 6 947 51 doi 10 1111 j 1651 2227 1982 tb09554 x PMID 6891556 S2CID 43416274 Burris TP Guo W Le T McCabe ER Sep 1995 Identification of a putative steroidogenic factor 1 response element in the DAX 1 promoter Biochemical and Biophysical Research Communications 214 2 576 81 doi 10 1006 bbrc 1995 2324 PMID 7677767 Bardoni B Zanaria E Guioli S Floridia G Worley KC Tonini G Ferrante E Chiumello G McCabe ER Fraccaro M Aug 1994 A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal Nature Genetics 7 4 497 501 doi 10 1038 ng0894 497 PMID 7951319 S2CID 20673267 Zanaria E Muscatelli F Bardoni B Strom TM Guioli S Guo W Lalli E Moser C Walker AP McCabe ER Dec 1994 An unusual member of the nuclear hormone receptor superfamily responsible for X linked adrenal hypoplasia congenita Nature 372 6507 635 41 Bibcode 1994Natur 372 635Z doi 10 1038 372635a0 PMID 7990953 S2CID 4363344 Muscatelli F Strom TM Walker AP Zanaria E Recan D Meindl A Bardoni B Guioli S Zehetner G Rabl W Dec 1994 Mutations in the DAX 1 gene give rise to both X linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism Nature 372 6507 672 6 Bibcode 1994Natur 372 672M doi 10 1038 372672a0 PMID 7990958 S2CID 4314671 Guo W Burris TP McCabe ER Oct 1995 Expression of DAX 1 the gene responsible for X linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism in the hypothalamic pituitary adrenal gonadal axis Biochemical and Molecular Medicine 56 1 8 13 doi 10 1006 bmme 1995 1049 PMID 8593542 Yanase T Takayanagi R Oba K Nishi Y Ohe K Nawata H Feb 1996 New mutations of DAX 1 genes in two Japanese patients with X linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism The Journal of Clinical Endocrinology and Metabolism 81 2 530 5 doi 10 1210 jcem 81 2 8636263 PMID 8636263 Guo W Burris TP Zhang YH Huang BL Mason J Copeland KC Kupfer SR Pagon RA McCabe ER Jul 1996 Genomic sequence of the DAX1 gene an orphan nuclear receptor responsible for X linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism The Journal of Clinical Endocrinology and Metabolism 81 7 2481 6 doi 10 1210 jcem 81 7 8675564 PMID 8675564 Nakae J Tajima T Kusuda S Kohda N Okabe T Shinohara N Kato M Murashita M Mukai T Imanaka K Fujieda K Oct 1996 Truncation at the C terminus of the DAX 1 protein impairs its biological actions in patients with X linked adrenal hypoplasia congenita The Journal of Clinical Endocrinology and Metabolism 81 10 3680 5 doi 10 1210 jcem 81 10 8855822 PMID 8855822 Schwartz M Blichfeldt S Muller J Jan 1997 X linked adrenal hypoplasia in a large Greenlandic family Detection of a missense mutation N4401 in the DAX 1 gene implication for genetic counselling and carrier diagnosis Human Genetics 99 1 83 7 doi 10 1007 s004390050316 PMID 9003500 S2CID 31266597 Takahashi T Shoji Y Shoji Y Haraguchi N Takahashi I Takada G Mar 1997 Active hypothalamic pituitary gonadal axis in an infant with X linked adrenal hypoplasia congenita The Journal of Pediatrics 130 3 485 8 doi 10 1016 S0022 3476 97 70217 8 PMID 9063431 Nakae J Abe S Tajima T Shinohara N Murashita M Igarashi Y Kusuda S Suzuki J Fujieda K Nov 1997 Three novel mutations and a de novo deletion mutation of the DAX 1 gene in patients with X linked adrenal hypoplasia congenita The Journal of Clinical Endocrinology and Metabolism 82 11 3835 41 doi 10 1210 jcem 82 11 4342 PMID 9360549 Zazopoulos E Lalli E Stocco DM Sassone Corsi P Nov 1997 DNA binding and transcriptional repression by DAX 1 blocks steroidogenesis Nature 390 6657 311 5 Bibcode 1997Natur 390 311Z doi 10 1038 36899 PMID 9384387 S2CID 4417467 External links EditGeneReviews NCBI NIH UW entry on 46 XY Disorder of Sex Development and 46 XY Complete Gonadal Dysgenesis OMIM entries on 46 XY Disorder of Sex Development and 46 XY Complete Gonadal Dysgenesis GeneReviews NIH NCBI UW entry on X Linked Adrenal Hypoplasia Congenita including Complex Glycerol Kinase Deficiency GeneCard for NR0B1 Retrieved from https en wikipedia org w index php title DAX1 amp oldid 1168063765, wikipedia, wiki, book, books, library,
