NDLI: Complete androgen insensitivity caused by a splice donor site mutation in intron 2 of the human androgen receptor gene resulting in an exon 2-lacking transcript with premature stop-codon and reduced expression

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Complete androgen insensitivity caused by a splice donor site mutation in intron 2 of the human androgen receptor gene resulting in an exon 2-lacking transcript with premature stop-codon and reduced expression

Content Provider	Semantic Scholar
Author	Hellwinkel, Olaf José-Carlos Bull, K. R. Holterhus, Paul-Martin Homburg, Nicole Hiort, Olaf
Copyright Year	1999
Abstract	Various mutations within the human androgen receptor gene have been documented to cause defective sexual differentiation in karyotypic male individuals. In this study, we report a previously undescribed point mutation at the donor splice-site of the second intron of the androgen receptor gene in a patient with a completely female phenotype. The sequence alteration was detected by single-strand-conformation-analysis-PCR and genomic sequencing. Applying competitive reverse transcribed PCR, cDNA sequencing and Western blotting, we could demonstrate considerable aberrations of structure and concentration of the transcript and its translation product in the patient's fibroblasts from the genital region. (1) In the transcript, exon 1 and 3 are directly linked to each other, the complete second exon is skipped. The mRNA predictively suffers a codon frame-shift in exon 3 associated with a premature termination between codons 598 and 599, leading to a truncated androgen receptor protein lacking any in vivo function. (2) Steady-state concentration levels of transcript and protein are abnormally low. Our observations highlight the influence of exon-flanking intron sequences on proper expression and function of gene products.
Starting Page	1
Ending Page	9
Page Count	9
File Format	PDF HTM / HTML
DOI	10.1016/S0960-0760(98)00157-5
PubMed reference number	10215032
Journal	Medline
Volume Number	68
Alternate Webpage(s)	https://api.elsevier.com/content/article/pii/S0960076098001575
Alternate Webpage(s)	https://www.sciencedirect.com/science/article/pii/S0960076098001575?dgcid=api_sd_search-api-endpoint
Alternate Webpage(s)	https://doi.org/10.1016/S0960-0760%2898%2900157-5
Journal	The Journal of Steroid Biochemistry and Molecular Biology
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article

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