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FMR1 expression in human granulosa cells increases with exon 1 CGG repeat length depending on ovarian reserve.

ABSTRACT: BACKGROUND:Fragile-X-Mental-Retardation-1- (FMR1)-gene is supposed to be a key gene for ovarian reserve and folliculogenesis. It contains in its 5'-UTR a triplet-base-repeat (CGG), that varies between 26 and 34 in general population. CGG-repeat-lengths with 55-200 repeats (pre-mutation?=?PM) show instable heredity with a tendency to increase and are associated with premature-ovarian-insufficiency or failure (POI/POF) in about 20%. FMR1-mRNA-expression in leucocytes and granulosa cells (GCs) increases with CGG-repeat-length in PM-carriers, but variable FMR1-expression profiles were also described in women with POI without PM-FMR1 repeat-length. Additionally, associations between low numbers of retrieved oocytes and elevated FMR1-expression levels have been shown in GCs of females with mid-range PM-CGG-repeats without POI. Effects of FMR1-repeat-lengths-deviations (n??34) below the PM range (n?

SUBMITTER: Rehnitz J 

PROVIDER: S-EPMC6035797 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature

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FMR1 expression in human granulosa cells increases with exon 1 CGG repeat length depending on ovarian reserve.

Rehnitz Julia J   Alcoba Diego D DD   Brum Ilma S IS   Dietrich Jens E JE   Youness Berthe B   Hinderhofer Katrin K   Messmer Birgitta B   Freis Alexander A   Strowitzki Thomas T   Germeyer Ariane A  

Reproductive biology and endocrinology : RB&E 20180707 1

<h4>Background</h4>Fragile-X-Mental-Retardation-1- (FMR1)-gene is supposed to be a key gene for ovarian reserve and folliculogenesis. It contains in its 5'-UTR a triplet-base-repeat (CGG), that varies between 26 and 34 in general population. CGG-repeat-lengths with 55-200 repeats (pre-mutation = PM) show instable heredity with a tendency to increase and are associated with premature-ovarian-insufficiency or failure (POI/POF) in about 20%. FMR1-mRNA-expression in leucocytes and granulosa cells (G  ...[more]

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