Localization of Y chromosome sequences and X chromosomal replication studies in XX males
| Autor: | Stefan K. Bohlander, M. Fraccaro, Gerd Scherer, Gaby Müller, W. Rommerskirch, Werner Schempp, Ulrich Wolf |
|---|---|
| Rok vydání: | 1989 |
| Předmět: |
Genetic Markers
Male medicine.medical_specialty X Chromosome Chromosomal translocation Biology Y chromosome Gene dosage X-inactivation 03 medical and health sciences Dosage Compensation Genetic Y Chromosome Genetics medicine Humans Skewed X-inactivation Sex Chromosome Aberrations Genetics (clinical) X chromosome Arylsulfatases 030304 developmental biology Southern blot 0303 health sciences Base Sequence 030305 genetics & heredity Cytogenetics Nucleic Acid Hybridization Molecular biology Karyotyping Steryl-Sulfatase Chromosome Deletion DNA Probes |
| Zdroj: | Human Genetics. 81:144-148 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf00293890 |
| Popis: | By in situ hybridization, Y-specific DNA sequences were localized on Xp22.3-Xpter of one of the two X chromosomes in all of eleven XX males studied. In nine of the cases the presence of the Y-specific DNA did not affect random X inactivation in fibroblasts. Fibroblasts of the other two cases showed a preferential inactivation of the Y DNA-carrying X chromosome. In only one of these two exceptions blood lymphocytes could also be studied, and here, random inactivation of the Y DNA-carrying X chromosome occurred. Furthermore, the gene dosage of steroid sulfatase (STS) was examined by Southern blot analysis. In ten of the cases including the one showing random X-inactivation in lymphocytes but not in fibroblasts, a double dosage of the STS gene is present. The remaining case with non-random inactivation shows a single STS gene dosage. This case was reported previously to have STS enzyme activity in the male range. It is assumed that, as a consequence of an unequal X-Y interchange, a deletion of X-specific DNA sequences may result in the preferential inactivation of the Y DNA-carrying X chromosome. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink