description): Sex determination is a fundamental process in human development. The predisposition to many diseases is affected by whether one is male or female. In addition, approximately one in every one thousand live-born infants has abnormal gonadal development (gonadal dysgenesis). Most commonly this occurs from absence of an SRY gene, mutation of the SRY gene, or failure to transmit the signal of the SRY gene, but in many cases, the genetic basis is not understood. Based on the hypothesis that familial cases of sex reversal are caused by mutations in an autosomal or X-linked gene in the testis determining pathway, the applicant proposes to identify such a gene by genetic linkage to polymorphic short tandem repeats (STRs) in a large family with multiple occurrences of pure or partial gonadal dysgenesis. This work should lead to a better understanding of the mechanisms of normal and abnormal sex determination.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Small Research Grants (R03)
Project #
1R03HD039339-01
Application #
6166843
Study Section
Pediatrics Subcommittee (CHHD)
Program Officer
Taymans, Susan
Project Start
2000-09-04
Project End
2002-06-30
Budget Start
2000-09-04
Budget End
2001-06-30
Support Year
1
Fiscal Year
2000
Total Cost
$82,500
Indirect Cost
Name
New York University
Department
Pediatrics
Type
Schools of Medicine
DUNS #
121911077
City
New York
State
NY
Country
United States
Zip Code
10016