Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
XY Sex reversal associated with a nonsense mutation in SRY
Genomics, Volume 13, No. 3, Year 1992
Notification
URL copied to clipboard!
Description
Sex determination in humans is mediated through the expression of a testis-determining gene on the Y chromosome. In humans, a candidate gene for the testis-determining factor (TDF) that encodes a protein with a putative DNA-binding motif and has been isolated is termed SRY. Here we describe an XY sex-reversed female with pure gonadal dysgenesis who harbors a de novo nonsense mutation in the SRY open reading frame (SRY-orf). This single-basepair substitution results directly in the formation of a termination codon in the putative SRY DNA-binding motif, presumably leading to a nonfunctional gene product. This brings the number of reported XY sex-reversed females with de novo mutations in the known SRY-orf to three, each occurring in the putative DNA-binding domain. This provides further evidence to support SRY being TDF in humans and also indicates the functional importance of the putative DNA-binding domain of the SRY protein. © 1992.
Authors & Co-Authors
McElreavey, Ken D.
France, Paris
Inserm
Vilain, Éric J.N.
France, Paris
Inserm
Boucekkine, Chafika
Algeria, Algiers
Hôpital de Bologhine
Vidaud, Michel
France, Paris
Institut de Puériculture et de Périnatalogie
Jaubert, Françis
France, Paris
Hôpital Necker Enfants Malades
Richaud, François V.
France, Paris
Inserm
Fellous, Marc
France, Paris
Inserm
Statistics
Citations: 67
Authors: 7
Affiliations: 4
Identifiers
Doi:
10.1016/0888-7543(92)90164-N
ISSN:
08887543
e-ISSN:
10898646
Research Areas
Cancer
Genetics And Genomics
Participants Gender
Female