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Expression profile of NSDHL in human peripheral tissues

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Abstract

NAD(P) steroid dehydrogenase-like (NSDHL) is an X-linked gene that encodes a 3β-hydroxysteroid dehydrogenase in the cholesterol biosynthetic pathway. Loss-of-function mutations in NSDHL cause Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) and CK syndromes. CHILD syndrome is a male lethal X-linked dominant disorder characterized by asymmetric skin and limb anomalies in affected females. CK syndrome is an intellectual disability disorder characterized by disproportionate short stature, brain malformations, and dysmorphic features in affected males. To understand better the relationship of the expression of mRNA and protein encoded by human NSDHL to the peripheral malformations of these disorders, we characterized the peripheral expression of the mRNA and protein by quantitative reverse transcriptase polymerase chain reaction (qRT-PCR), immunoblotting and immunohistochemistry. We also profiled the mRNA expression of mouse Nsdhl by in situ hybridization. Expression of the mRNA and protein encoded by human NSDHL parallels that of mouse Nsdhl mRNA for most but not all tissues. Furthermore, human NSDHL protein and mouse Nsdhl mRNA were expressed in tissues synthesizing cholesterol and steroids and in all peripheral tissues affected by CHILD or CK syndromes.

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Acknowledgments

The authors thank Drs. Gail Herman and David Cunningham for critical review of this manuscript. This work was supported in part by a British Columbia Children’s Hospital Foundation Telethon Award (C.D.S.), a Scottish Rite Foundation Award (C.D.S.) and a Child & Family Research Institute Establishment Award (C.F.B.). C.F.B. is a scholar of the Michael Smith Foundation for Health Research.

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Authors and Affiliations

  1. Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada

    Marie Morimoto, Christèle du Souich, Joanne Trinh, Keith W. McLarren & Cornelius F. Boerkoel

  2. Rare Disease Foundation, Vancouver, BC, Canada

    Marie Morimoto, Christèle du Souich, Joanne Trinh, Keith W. McLarren, Cornelius F. Boerkoel & Glenda Hendson

  3. Department of Anatomic Pathology, University of British Columbia and Children’s and Women’s Health Centre of British Columbia, Vancouver, BC, V6H 3N1, Canada

    Glenda Hendson

  4. Provincial Medical Genetics Program, Department of Medical Genetics, Children’s and Women’s Health Centre of BC, 4500 Oak Street, Room C234, Vancouver, BC, V6H 3N1, Canada

    Cornelius F. Boerkoel

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  1. Marie Morimoto
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  2. Christèle du Souich
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  3. Joanne Trinh
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  4. Keith W. McLarren
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  5. Cornelius F. Boerkoel
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  6. Glenda Hendson
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Corresponding author

Correspondence to Cornelius F. Boerkoel.

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Morimoto, M., du Souich, C., Trinh, J. et al. Expression profile of NSDHL in human peripheral tissues. J Mol Hist 43, 95–106 (2012). https://doi.org/10.1007/s10735-011-9375-x

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  • DOI: https://doi.org/10.1007/s10735-011-9375-x

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