Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis

J. R. Hawkins, A. Taylor, P. N. Goodfellow, C. J. Migeon, K. D. Smith, Gary Berkovitz

Research output: Contribution to journalArticle

111 Citations (Scopus)

Abstract

The Y chromosome gene SRY (sex-determining region, Y gene) has been equated with the mammalian testis-determining factor. The SRY gene of five subjects with 46,XY complete gonadal dysgenesis (46,XY karyotype, completely female external genitalia, normal Müllerian ducts, and streak gonads) was evaluated for possible mutations in the coding region by using both single-strand conformation polymorphism (SSCP) assay and DNA sequencing. Mutations were identified in three subjects, of which two gave altered SSCP patterns. Two of them were point mutations causing amino acid substitutions, and the third was a single-base deletion causing a frameshift. All three mutations caused alterations in the putative DNA-binding region of the SRY protein. Genomic DNA was obtained from the fathers of two of the three mutant patients: one mutation was demonstrated to be de novo, and the other was inherited. The presence of SRY mutations in three of five patients suggests that the frequency of SRY mutations in XY females is higher than current estimates.

Original languageEnglish
Pages (from-to)979-984
Number of pages6
JournalAmerican Journal of Human Genetics
Volume51
Issue number5
StatePublished - Nov 1 1992
Externally publishedYes

Fingerprint

sry Genes
Gonadal Dysgenesis
46,XY Gonadal Dysgenesis
Mutation
Sex-Determining Region Y Protein
Y-Linked Genes
Female Genitalia
DNA
Gonads
Amino Acid Substitution
Karyotype
DNA Sequence Analysis
Point Mutation
Fathers
XY female 46

ASJC Scopus subject areas

  • Genetics

Cite this

Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. / Hawkins, J. R.; Taylor, A.; Goodfellow, P. N.; Migeon, C. J.; Smith, K. D.; Berkovitz, Gary.

In: American Journal of Human Genetics, Vol. 51, No. 5, 01.11.1992, p. 979-984.

Research output: Contribution to journalArticle

Hawkins, J. R. ; Taylor, A. ; Goodfellow, P. N. ; Migeon, C. J. ; Smith, K. D. ; Berkovitz, Gary. / Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. In: American Journal of Human Genetics. 1992 ; Vol. 51, No. 5. pp. 979-984.
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