1: Biol Reprod. 2005 Nov;73(5):959-66. Epub 2005 Jul 13. 

Large-scale temporal gene expression profiling during gonadal differentiation
and early gametogenesis in rainbow trout.

Baron D, Houlgatte R, Fostier A, Guiguen Y.

Institut National de la Recherche Agronomique, INRA SCRIBE, IFR 140, Campus de
Beaulieu, 35000 Rennes, France.

The overall understanding of the sex differentiation cascade in vertebrates is
still growing slowly, probably because of the variety of vertebrate models used
and the number of molecular players yet to be discovered. Finding conserved
mechanisms among vertebrates should provide a better view of the key factors
involved in this process. To this end, we used real-time reverse
transcription-polymerase chain reaction to produce a temporal map of
fluctuations in mRNA expression of 102 genes during sex differentiation and
early gametogenesis in the rainbow trout (Oncorhynchus mykiss). We used these
102 temporal gene expression patterns as a basis for a hierarchical clustering
analysis to find characteristic clusters of coexpressed genes. Analysis of some
of these gene clusters suggested a conserved overall expression profile between
the sex differentiation cascade in fish and mammals. Among these conserved
molecular mechanisms, sox9, dmrt1, amh, nr5a1, nr0b1, igf1, and igf1ra are, for
instance, characterized as early expressed genes involved in trout testicular
differentiation as it is known or suggested in mammals. On the contrary, foxl2,
fst, and lhr are characterized as early expressed genes during trout ovarian
differentiation, as also found in mammals. Apart from this high conservation,
our analysis suggests some potential new players, such as the fshb subunit gene,
which is detected here for the first time, to our knowledge, in the female
differentiating gonad of a vertebrate species and displays a specific
overexpression that coincides in timing with the occurrence of first oocyte
meioses, or the pax2 gene, which displays an early and testis-specific
expression profile.

PMID: 16014816 [PubMed - in process]


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2: Curr Opin Genet Dev. 1996 Jun;6(3):334-42. 

Transcription factors in disease.

Engelkamp D, van Heyningen V.

MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.
dieter@hgu.mrc.ac.uk

Mutations affecting several predominantly tissue-specific transcriptional
regulators have recently been associated with disease phenotypes. Although the
mutational spectrum is variable, many of the reported cases involve clear
loss-of-function mutations-such as Waardenburg syndrome type 1, aniridia and
Rubinstein-Taybi syndrome-suggesting that the genetic mechanism involved in
disease is haplo-insufficiency. The high degree of dosage sensitivity often
appears to affect only a subset of the tissues that express the gene. Position
effects with cytogenetic rearrangements well outside the coding region have been
implicated for four of the genes discussed: POU3F4, SOX9, PAX6, and GL13.

Publication Types:
    Review
    Review, Tutorial

PMID: 8791518 [PubMed - indexed for MEDLINE]


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