International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


ORAL PRESENTATION

MONDAY 10 NOVEMBER
15:15 – 15:30 HRS

ODSM1 A LOCUS WITH MATERNAL EFFECT, SUPPRESS THE SEX REVERSAL IN THE ODSEX ( ODS) MODEL

Poirier C
Department of Obstetrics and Gynecology, Baylor College of Medicine

Co-Authors: 1) Qin Y, 1) Truong C, 1) Agoulnik A I, 1,2) Bishop CE
Institutions: 1) Department of Obstetrics and Gynecology, Baylor College of Medicine, 2) Department of Molecular and Human Genetics, Baylor College of Medicine

Microinjection of a tyrosinase cDNA driven by the Dct promoter into the pronuclei of FVB/N fertilized eggs was used to produce several pigmented mouse transgenic lines. In one of those lines (#1220), the transgenic insertion was associated with a 150kb genomic deletion ~1Mb upstream of Sox9 on mouse chromosome 11. The insertion/deletion led to over-expression of Sox9, in the XX fetal gonad resulting in female to male sex reversal in all XX mice heterozygous for the rearrangement. This mutation, Odsex (Ods), was dominant and fully penetrant in the FVB/N strain.

When FVB/N XY Ods/+ males were crossed to A/J females approximately 95% of the F1 XX Ods/+ mice developed as fully fertile females. The F1(AXFVB)-Ods/+ were intercrossed, and a segregation of the sex phenotype was observed among the F2 XX Ods/+ progeny . A single locus controlling sex determination in this F2 population was mapped to mouse chromosome 18 and termed Odsex modifier 1 (Odsm1).

From the F1 data we were expecting Odsm1A to be dominant over Odsm1F. However, in the F2 XX Ods/+ mice, the effect of the modifier was manifest only in mice homozygous for Odsm1F (XX Ods/+ males) or for Odsm1A (XX Ods/+ females).

Additional crosses showed that Odsm1 acted through a maternal effect, the sex determination of the XX Ods/+ embryo was indeed controlled by the genotype of the mother regardless of the zygotic genotype.


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