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Sex determining gene on the X chromosome short arm: dosage sensitive sex reversal.
- Source :
-
Acta paediatrica Japonica : Overseas edition [Acta Paediatr Jpn] 1996 Aug; Vol. 38 (4), pp. 390-8. - Publication Year :
- 1996
-
Abstract
- The present review article summarizes current knowledge concerning the sex determining gene on Xp21, termed DSS (dosage sensitive sex reversal). The presence of DSS has been based on the finding that, in the presence of SRY, partial active Xp duplications encompassing the middle part of Xp result in sex reversal, whereas those of the distal or proximal part of Xp permit male sex development. Because Klinefelter patients develop as males, it is believed that DSS is normally subject to X-inactivation, and that two active copies of DSS override the function of SRY, resulting in gonadal dysgenesis because of meiotic pairing failure. It may be possible that DSS encodes a target sequence for repressing function of SRY or that DSS is involved in an X chromosome-counting mechanism. Molecular approaches have localized DSS to a 160 kb region and isolated candidate genes such as DAX-1 and MAGE-Xp, but there has been no formal evidence equating the candidate gene with DSS. In addition to its clinical importance, the exploration of DSS must provide a useful clue to phylogenetic studies of sex chromosomes and dosage compensation.
- Subjects :
- Animals
Antigens, Neoplasm
DAX-1 Orphan Nuclear Receptor
Female
Gonadal Dysgenesis genetics
Humans
Male
Mutation
Proteins genetics
Sex-Determining Region Y Protein
Testis embryology
DNA-Binding Proteins genetics
Dosage Compensation, Genetic
Genes
Neoplasm Proteins
Nuclear Proteins
Receptors, Retinoic Acid genetics
Repressor Proteins
Sex Determination Analysis
Sex Differentiation genetics
Transcription Factors genetics
X Chromosome genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0374-5600
- Volume :
- 38
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Acta paediatrica Japonica : Overseas edition
- Publication Type :
- Academic Journal
- Accession number :
- 8840552
- Full Text :
- https://doi.org/10.1111/j.1442-200x.1996.tb03513.x