Title |
Steroid sulphatase in man: A non inactivated X-locus with partial gene dosage compensation
|
---|---|
Published in |
Human Genetics, February 1984
|
DOI | 10.1007/bf00291559 |
Pubmed ID | |
Authors |
G. Lykkesfeldt, Anne E. Lykkesfeldt, N. E. Skakkeb�k |
Abstract |
Steroid sulphatase (STS) activity was measured with two different steroid substrates in leucocytes from normal human males and females, from females heterozygous for STS deficiency and recessive X-linked ichthyosis, and from individuals with numerical X chromosome aberrations. The results indicate non-inactivation with a partial gene dosage compensation at the STS locus. It is estimated that STS loci on inactive X chromosomes express approximately 45% of the STS activity originating from STS loci on active X chromosomes. It is also demonstrated that 45,XO (Turner syndrome) and 47,XXY (Klinefelter syndrome) individuals have abnormal STS enzyme levels compared with normal women and men, respectively. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 7 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 1 | 14% |
Professor | 1 | 14% |
Student > Ph. D. Student | 1 | 14% |
Researcher | 1 | 14% |
Professor > Associate Professor | 1 | 14% |
Other | 0 | 0% |
Unknown | 2 | 29% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 1 | 14% |
Agricultural and Biological Sciences | 1 | 14% |
Medicine and Dentistry | 1 | 14% |
Neuroscience | 1 | 14% |
Engineering | 1 | 14% |
Other | 0 | 0% |
Unknown | 2 | 29% |