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    Topic review

    NR0B1 Gene

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    Submitted by: Lily Guo
    (This entry belongs to Entry Collection "MedlinePlus ")

    Definition

    nuclear receptor subfamily 0 group B member 1

    1. Introduction

    The NR0B1 gene provides instructions for making a protein called DAX1. This protein plays an important role in the development and function of several hormone-producing (endocrine) tissues in the body. These tissues include the small glands located on top of each kidney (the adrenal glands), two hormone-secreting glands in the brain (the hypothalamus and pituitary), and the gonads (ovaries in females and testes in males). Before birth, the DAX1 protein helps regulate genes that direct the formation of these tissues. DAX1 also helps regulate hormone production in endocrine tissues after they have been formed.

    2. Health Conditions Related to Genetic Changes

    2.1. X-linked adrenal hypoplasia congenita

    More than 110 NR0B1 mutations that cause X-linked adrenal hypoplasia congenita have been identified. Some of these genetic changes are deletions of all or part of the NR0B1 gene. Other mutations lead to the production of an abnormally short version of the DAX1 protein. Still other mutations change single protein building blocks (amino acids) in a critical region of DAX1.

    Most of the mutations responsible for X-linked adrenal hypoplasia congenita prevent the NR0B1 gene from producing any active DAX1 protein. A shortage of DAX1 disrupts the normal development and function of hormone-producing tissues in the body. The main characteristics of this condition result when endocrine glands such as the adrenals, hypothalamus, pituitary, and gonads do not produce the right amounts of specific hormones.

    2.2. Other disorders

    In some cases, genetic material is deleted from a region of the X chromosome 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 delayed development and problems regulating their blood sugar levels. In rare cases, the deletion also includes the gene associated with Duchenne muscular dystrophy. People with this larger deletion have progressive muscle weakness and wasting in addition to the other features of adrenal hypoplasia congenita with complex glycerol kinase deficiency.

    3. Other Names for This Gene

    • AHC
    • AHCH
    • AHX
    • DAX-1
    • DAX1
    • DSS
    • gonadotropin deficiency
    • GTD
    • HHG
    • NR0B1_HUMAN
    • nuclear hormone receptor
    • nuclear receptor DAX-1
    • nuclear receptor subfamily 0, group B, member 1

    This entry is adapted from https://medlineplus.gov/genetics/gene/nr0b1

    References

    1. Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell A. Isolated46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitialduplication containing the DAX1 gene. J Clin Endocrinol Metab. 2007Aug;92(8):3305-13.
    2. Clipsham R, McCabe ER. DAX1 and its network partners: exploring complexity in development. Mol Genet Metab. 2003 Sep-Oct;80(1-2):81-120. Review.
    3. Iyer AK, McCabe ER. Molecular mechanisms of DAX1 action. Mol Genet Metab. 2004Sep-Oct;83(1-2):60-73. Review.
    4. King TF, Conway GS. Swyer syndrome. Curr Opin Endocrinol Diabetes Obes. 2014Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. Review.
    5. Lalli E, Sassone-Corsi P. DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation. Mol Endocrinol. 2003Aug;17(8):1445-53.
    6. Lehmann SG, Lalli E, Sassone-Corsi P. X-linked adrenal hypoplasia congenita iscaused by abnormal nuclear localization of the DAX-1 protein. Proc Natl Acad Sci U S A. 2002 Jun 11;99(12):8225-30.
    7. Lehmann SG, Wurtz JM, Renaud JP, Sassone-Corsi P, Lalli E. Structure-function analysis reveals the molecular determinants of the impaired biological functionof DAX-1 mutants in AHC patients. Hum Mol Genet. 2003 May 1;12(9):1063-72.
    8. Ludbrook LM, Harley VR. Sex determination: a 'window' of DAX1 activity. TrendsEndocrinol Metab. 2004 Apr;15(3):116-21. Review.
    9. McCabe ER. DAX1: Increasing complexity in the roles of this novel nuclearreceptor. Mol Cell Endocrinol. 2007 Feb;265-266:179-82.
    10. Niakan KK, McCabe ER. DAX1 origin, function, and novel role. Mol Genet Metab. 2005 Sep-Oct;86(1-2):70-83. Review.
    11. Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT. Isolated and contiguous glycerol kinase gene disorders: a review. J Inherit Metab Dis. 2000Sep;23(6):529-47. Review.
    12. Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, LupskiJR, Cheung SW, Stankiewicz P. Male-to-female sex reversal associated with anapproximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet. 2007Aug;122(1):63-70.
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