Nsdhl

Summary

Gene Symbol: Nsdhl
Description: NAD(P) dependent steroid dehydrogenase-like
Alias: AI747449, Bpa, H105E3, Str, XAP104, sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating, NAD(P)-dependent steroid dehydrogenase-like protein, bare patches, striated
Species: mouse

Top Publications

  1. ncbi The Str mouse as a model for incontinentia pigmenti
    T Perkovic
    Department of Obstetrics and Gynecology, UMC Ljubljana, Slovenia
    Pflugers Arch 440:R53-4. 2000
  2. pmc Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
    Keith W McLarren
    Department of Medical Genetics, Vancouver, Canada
    Am J Hum Genet 87:905-14. 2010
  3. pmc Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development
    David Cunningham
    Center for Molecular and Human Genetics, The Research Institute at Nationwide Children s Hospital and Department of Pediatrics, The Ohio State University, Columbus, OH, USA
    Hum Mol Genet 24:2808-25. 2015
  4. pmc Identification of a novel polymorphism in X-linked sterol-4-alpha-carboxylate 3-dehydrogenase (Nsdhl) associated with reduced high-density lipoprotein cholesterol levels in I/LnJ mice
    David J Bautz
    Department of Genetics, North Carolina State University, Raleigh, North Carolina 27695
    G3 (Bethesda) 3:1819-25. 2013
  5. pmc Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation
    Anna Sukhanova
    Program in Developmental Therapeutics, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA
    Cancer Discov 3:96-111. 2013
  6. ncbi Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2
    S Aradhya
    Am J Med Genet 91:241-4. 2000
  7. pmc Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos
    David Cunningham
    Department of Pediatrics, The Research Institute at Nationwide Children s Hospital, The Ohio State University, Columbus, OH 43205, USA
    Hum Mol Genet 19:364-73. 2010
  8. pmc Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse
    David Cunningham
    The Research Institute at Nationwide Children s Hospital, Columbus, OH 43205, USA
    Mol Genet Metab 98:356-66. 2009
  9. ncbi Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development
    Fenglei Jiang
    Center for Molecular and Human Genetics, Columbus Children s Research Institute, Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA
    Hum Mol Genet 15:3293-305. 2006
  10. ncbi Xlr3b is a new imprinted candidate for X-linked parent-of-origin effects on cognitive function in mice
    William Davies
    Laboratories of Cognitive and Behavioral Neuroscience and Developmental Genetics and Imprinting, The Babraham Institute, The Babraham Research Campus, Cambridge, CB2 4AT, UK
    Nat Genet 37:625-9. 2005

Scientific Experts

  • David Cunningham
  • Gail E Herman
  • Richard I Kelley
  • Fenglei Jiang
  • David J Bautz
  • Anna Sukhanova
  • G E Herman
  • Lisa E Kratz
  • Keith W McLarren
  • William Davies
  • Hugo Caldas
  • S D Brown
  • A M Mallon
  • Marsha E Lucas
  • Igor Astsaturov
  • Diana Restifo
  • Yan Zhou
  • Erica A Golemis
  • Gregory P Adams
  • Linara Gabitova
  • Dong Hua Yang
  • Ilya G Serebriiskii
  • Tetyana Bagnyukova
  • Louis M Weiner
  • Hui Zheng
  • Hanqing Liu
  • Karl W Broman
  • Andres Klein-Szanto
  • Brian L Egleston
  • Anna Nikonova
  • Barbara Burtness
  • Kathy Q Cai
  • Ranee Mehra
  • David W Threadgill
  • Andrey Gorin
  • N A Nwokoro
  • Jacques L Michaud
  • Athena Chou
  • Debbie Shears
  • Patrick S Tarpey
  • Tesa M Severson
  • Guy A Rouleau
  • Laura Arbour
  • Cornelius F Boerkoel
  • S Aradhya
  • Jessica E Paul
  • Karl Heinz Grzeschik
  • Steven J M Jones
  • David W Stockton
  • Yongjun Zhao
  • Jianghong An
  • Jingyi Yin
  • Michael R Stratton
  • P M Nolan
  • Diane Wu
  • Raffaella Smith
  • Andrea E DeBarber
  • Glenda Hendson
  • F Lucy Raymond
  • Christèle du Souich
  • Margot I Van Allen
  • Charles E Schwartz
  • Barbara McGillivray
  • T Perkovic
  • Michelle Demos
  • Marco A Marra
  • Jozef Gecz
  • Richard Moore
  • Robert D Steiner
  • Jane Hurlburt
  • Tanya N Nelson
  • Louise S Merkens
  • Ryan D Morin
  • Paula J Waters
  • A Poustka
  • M Rhodes
  • R Bate
  • W Miller
  • P Denny
  • M A Strivens
  • J Peters
  • A Smahi
  • X Y Liu
  • David Skuse
  • Trevor Humby
  • Xiaojian Wang
  • Obah Ojarikre
  • Delicia Karunadasa
  • Paul Burgoyne
  • Lawrence Wilkinson

Detail Information

Publications30

  1. ncbi The Str mouse as a model for incontinentia pigmenti
    T Perkovic
    Department of Obstetrics and Gynecology, UMC Ljubljana, Slovenia
    Pflugers Arch 440:R53-4. 2000
    b>Striated mouse has been proposed as a model for incontinentia pigmenti (IP) based on the similarities in genetic predisposition and syntenic gene localisation in mouse...
  2. pmc Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
    Keith W McLarren
    Department of Medical Genetics, Vancouver, Canada
    Am J Hum Genet 87:905-14. 2010
    ..696_698del [p.Lys232del]) in exon 7 of NAD(P) dependent steroid dehydrogenase-like (NSDHL), a gene that encodes an enzyme in the cholesterol biosynthesis pathway...
  3. pmc Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development
    David Cunningham
    Center for Molecular and Human Genetics, The Research Institute at Nationwide Children s Hospital and Department of Pediatrics, The Ohio State University, Columbus, OH, USA
    Hum Mol Genet 24:2808-25. 2015
    ..Mutations in the gene encoding the enzyme are responsible for the X-linked, male lethal mouse mutations bare patches and striated, as well as most cases of human CHILD syndrome...
  4. pmc Identification of a novel polymorphism in X-linked sterol-4-alpha-carboxylate 3-dehydrogenase (Nsdhl) associated with reduced high-density lipoprotein cholesterol levels in I/LnJ mice
    David J Bautz
    Department of Genetics, North Carolina State University, Raleigh, North Carolina 27695
    G3 (Bethesda) 3:1819-25. 2013
    ..gene on Chr X for reduced HDL cholesterol levels revealed a novel, I/LnJ-specific nonsynonymous polymorphism in Nsdhl, which codes for sterol-4-alpha-carboxylate 3-dehydrogenase in the cholesterol synthesis pathway...
  5. pmc Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation
    Anna Sukhanova
    Program in Developmental Therapeutics, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA
    Cancer Discov 3:96-111. 2013
    ..that inactivation of 2 sterol biosynthesis pathway genes, SC4MOL (sterol C4-methyl oxidase-like) and its partner, NSDHL (NADP-dependent steroid dehydrogenase-like), sensitized tumor cells to EGFR inhibitors...
  6. ncbi Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2
    S Aradhya
    Am J Med Genet 91:241-4. 2000
  7. pmc Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos
    David Cunningham
    Department of Pediatrics, The Research Institute at Nationwide Children s Hospital, The Ohio State University, Columbus, OH 43205, USA
    Hum Mol Genet 19:364-73. 2010
    ..in the gene encoding the cholesterol biosynthetic enzyme NSDHL are associated with the X-linked male-lethal bare patches (Bpa) mouse. Mutant male embryos for several Nsdhl alleles die in midgestation with placental insufficiency...
  8. pmc Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse
    David Cunningham
    The Research Institute at Nationwide Children s Hospital, Columbus, OH 43205, USA
    Mol Genet Metab 98:356-66. 2009
    ..Mutations in the X-linked NSDHL gene cause CHILD syndrome in humans, and the male-lethal bare patches (Bpa) phenotype in mice...
  9. ncbi Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development
    Fenglei Jiang
    Center for Molecular and Human Genetics, Columbus Children s Research Institute, Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA
    Hum Mol Genet 15:3293-305. 2006
    ..Mutations in this gene cause the male lethal phenotypes in human CHILD syndrome and bare patches (Bpa) mice...
  10. ncbi Xlr3b is a new imprinted candidate for X-linked parent-of-origin effects on cognitive function in mice
    William Davies
    Laboratories of Cognitive and Behavioral Neuroscience and Developmental Genetics and Imprinting, The Babraham Institute, The Babraham Research Campus, Cambridge, CB2 4AT, UK
    Nat Genet 37:625-9. 2005
    ....
  11. ncbi Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme
    Hugo Caldas
    Center for Molecular and Human Genetics, Columbus Children s Research Institute, The Ohio State University, Columbus, OH 43205, USA
    Mol Genet Metab 84:48-60. 2005
    ..Mutations in the Nsdhl gene are associated with the X-linked male lethal mouse mutations bare patches (Bpa) and striated (Str), as well as with most cases of human CHILD syndrome...
  12. ncbi Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast
    Marsha E Lucas
    Department of Pediatrics, Center for Molecular and Human Genetics, Columbus Children s Research Institute, 700 Children s Dr Rm W403, Columbus, OH 43205, USA
    Mol Genet Metab 80:227-33. 2003
    ..Mutations in this gene are associated with the X-linked male lethal mouse mutations bare patches (Bpa) and striated (Str) and human CHILD syndrome...
  13. ncbi Genetic disorders of cholesterol biosynthesis in mice and humans
    N A Nwokoro
    Heritable Disorders Branch, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Genet Metab 74:105-19. 2001
    ..calcification-moth-eaten skeletal dysplasia), 3beta-hydroxysteroid dehydrogenase (CHILD syndrome, bare patches mouse, and striated mouse), 3beta-hydroxysteroid Delta8,Delta7-isomerase (X-linked dominant chondrodysplasia ..
  14. pmc Comparative genome sequence analysis of the Bpa/Str region in mouse and Man
    A M Mallon
    MRC UK Mouse Genome Centre and Mammalian Genetics Unit, Harwell, Oxon, UK
    Genome Res 10:758-75. 2000
    ..Our analysis used gene prediction and a database search of 430 kb of genomic sequence covering the Bpa/Str region of the mouse X chromosome, and 745 kb of genomic sequence from the homologous human X chromosome region...
  15. ncbi Inversion heterozygosity and the origin of XO daughters of Bpa/+female mice
    E P Evans
    Nature 256:40-1. 1975
  16. ncbi The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase
    X Y Liu
    Children s Hospital Research Foundation and Department of Pediatrics, The Ohio State University, Columbus 43205, USA
    Nat Genet 22:182-7. 1999
    ..None of the genes responsible has been isolated in either species. The bare patches (Bpa) and striated (Str) mouse mutations were originally identified in female offspring of X-irradiated males...
  17. ncbi A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28
    M L Levin
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genome Res 6:465-77. 1996
    The X-linked developmental mouse mutations bare patches (Bpa) and striated (Str) may be homologous to human X-linked dominant chondrodysplasia punctata (CDPX2) and incontinentia pigmenti (IP2), respectively, based on their genetic mapping ..
  18. ncbi Genetic mapping of the X-linked dominant mutations striated (Str) and bare patches (Bpa) to a 600-kb region of the mouse X chromosome: implications for mapping human disorders in Xq28
    T A Angel
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Mamm Genome 4:171-6. 1993
    Striated (Str) and bare patches (Bpa) are X-irradiation-induced, X-linked dominant mouse mutations that are lethal prenatally in hemizygous males. To map the Str mutation, we generated a backcross involving Mus castaneus...
  19. ncbi Genetic and physical mapping of the biglycan gene on the mouse X chromosome
    A Chatterjee
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030
    Mamm Genome 4:33-6. 1993
    ..Our mapping studies also appear to exclude Bgn as a candidate gene for the bare patches (Bpa) mutation and for the homologous human disorder X-linked dominant chondrodysplasia punctata (CDPX2).
  20. ncbi The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28
    A Smahi
    Unité de Recherches sur les Handicaps Génétiquesde l Enfant, INSERM U 12, Hopital Necker Enfants Malades, Paris, France
    Hum Mol Genet 3:273-8. 1994
    ..028). Linkage is established with distal markers DXS1108 (Z max = 10.06 at theta = 0.00) and DXYS154 (Z = 9.07 at theta = 0.019). Multipoint analysis supports the distal localization of the IP2 gene with respect to the F8C locus...
  21. ncbi Homologous genes for X-linked chondrodysplasia punctata in man and mouse
    R Happle
    Hum Genet 63:24-7. 1983
    ..In a comparative study, the murine X-linked mutant 'bare patches' was found to display strikingly similar skeletal, ocular, and cutaneous anomalies...
  22. ncbi Order of loci on the X-chromosome of the mouse
    M F Lyon
    Genet Res 7:130-3. 1966
  23. ncbi Mendelian inheritance of variations in beta-galactosidase activities in the house mouse
    L G Lundin
    Biochem Genet 10:351-61. 1973
  24. ncbi Bare-patches, a new sex-linked gene in the mouse, associated with a high production of XO females. I. A preliminary report of breeding experiments
    R J Phillips
    Genet Res 22:91-9. 1973
  25. ncbi Bare-patches, a new sex-linked gene in the mouse, associated with a high production of XO females. II. Investigations into the nature and mechanism of the XO production
    R J Phillips
    Genet Res 24:27-41. 1974
  26. ncbi The comparative biology of chondrodysplasias in mice
    K S Brown
    Laboratory of Development Biology and Anomalies, National Institute of Dental Research, Bethesda, MD
    Pathol Immunopathol Res 7:55-61. 1988
    ..The systematic study of these disturbed developmental and biochemical pathways will increase our understanding of chondrogenesis and chondrodysplasia as similar studies have done for intermediary metabolism...
  27. ncbi Conservation and reorganization of loci on the mammalian X chromosome: a molecular framework for the identification of homologous subchromosomal regions in man and mouse
    L C Amar
    Unité INSERM U 276, Institut Pasteur, Paris, France
    Genomics 2:220-30. 1988
    ....
  28. ncbi Close linkage of the murine locus bare patches to the X-linked visual pigment gene: implications for mapping human X-linked dominant chondrodysplasia punctata
    G E Herman
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030
    Genomics 7:307-12. 1990
    The murine X-linked dominant mutation bare patches (Bpa) has a phenotype similar to and is likely homologous to human X-linked dominant chondrodysplasia punctata (CDPX2)...
  29. ncbi Genetic mapping of the mouse X chromosome in the region homologous to human Xq27-Xq28
    G E Herman
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Genomics 9:670-7. 1991
    The four loci Gabra3, DXPas8, CamL1, and Bpa, located near the murine X-linked visual pigment gene (Rsvp), have been ordered using 248 backcross progeny from an interspecific mating of (B6CBA-Aw-J/A-Bpa) and Mus spretus...
  30. ncbi A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse
    P M Nolan
    MRC Mammalian Genetics Unit and Mouse Genome Centre, Harwell, UK
    Nat Genet 25:440-3. 2000
    ..Our work, along with the programme reported in the accompanying paper, has led to a substantial increase in the mouse mutant resource and represents a first step towards systematic studies of gene function in mammalian genetics...