In mammals, female development has traditionally been considered a default process in the absence of the testis-determining gene, Sry. Recently, it has been documented that the gene for R-spondin1 (RSPO1), a novel class of soluble activator for Wnt/beta-catenin signaling, is mutated in two Italian families with female-to-male (XX) sex reversal. To elucidate the role of Rspo1 as a candidate fema...

The inheritance of several X-linked restriction fragment length polymorphisms ( RFLPs ) is examined in seven 46,XX males and their immediate relatives. The XX males are shown to have inherited a paternal and a maternal RFLP allele in each of the five (of seven) families in which these X-linked markers are informative. In the other two families, a maternal X-chromosomal contribution is demonstra...

The steroid sulfatase (STS) levels in mature oocytes of XX and XO mice were assayed along with lactate dehydrogenase (LDH), an autosomal marker, and glucose-6-phosphate dehydrogenase (G6PD), a known X-linked gene. LDH levels in XX and XO oocytes were equal, whereas STS and G6PD levels were approximately twice as high in XX oocytes as in XO oocytes. These results indicate that the STS gene is X-...

Each Carnegie Mellon course number begins with a two-digit prefix which designates the department offering the course (76-xxx courses are offered by the Department of English, etc.). Although each department maintains its own course numbering practices, typically the first digit after the prefix indicates the class level: xx-1xx courses are freshmen-level, xx-2xx courses are sophomore level, et...

Eleven XX males and seven XX true hermaphrodites have been tested for the presence of Y-derived DNA sequences using six different probes. All eleven XX males were positive with at least one of the probes but none of the seven true hermaphrodites could be shown to possess any Y-DNA. Using a new sensitive test for serologically sex-specific (Sxs) antigen, we found that, despite their apparent lac...

Each Carnegie Mellon course number begins with a two-digit prefix which designates the department offering the course (76-xxx courses are offered by the Department of English, etc.). Although each department maintains its own course numbering practices, typically the first digit after the prefix indicates the class level: xx-1xx courses are freshmen-level, xx-2xx courses are sophomore level, et...

Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal girl with mu...

Background: The genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic–pituitary–steroidogenic axis. Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies...

Each Carnegie Mellon course number begins with a two-digit prefix which designates the department offering the course (76-xxx courses are offered by the Department of English, etc.). Although each department maintains its own course numbering practices, typically the first digit after the prefix indicates the class level: xx-1xx courses are freshmen-level, xx-2xx courses are sophomore level, et...

Each Carnegie Mellon course number begins with a two-digit prefix which designates the department offering the course (76-xxx courses are offered by the Department of English, etc.). Although each department maintains its own course numbering practices, typically the first digit after the prefix indicates the class level: xx-1xx courses are freshmen-level, xx-2xx courses are sophomore level, et...