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Title: Expansion of the CGG repeat in fragile X in the FRM1 gene depends on the sex of the offspring

Abstract

Analysis of 139 mother-to-offspring transmissions of fragile X CGG triplet repeats revealed that the repeat expansion is enhanced in mother-to-son transmissions compared with mother-to-daughter transmissions. Evidence has been based on analysis of mother-offspring differences in the size of repeat (in kb), as well as on comparisons between proportions of male and female offspring with premutations, and full mutations, inherited from mothers carrying a premutation. Mean difference in the repeat size from mother-son transmissions was 1.45 kb, compared with mother-daughter transmissions of 0.76 kb. The difference is due primarily to a greater proportion of male than female offspring with full mutation from the premutation mothers and also to a higher frequency of reduction in repeat size from mothers to daughters than from mothers to sons. Our findings suggest the possibility of an interaction of the normal X homologue in a female zygote with the FMR1 sequence on the fragile X during replication to account for the lower level of expansion in mother-to-daughter transmissions relative to mother-to-son transmissions. 27 refs., 3 figs., 2 tabs.

Authors:
;  [1];  [2]
  1. La Trobe Univ., Bundoora, Victoria (Australia)
  2. Royal Children`s Hospital, Melbourne (Australia); and others
Publication Date:
OSTI Identifier:
186212
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics
Additional Journal Information:
Journal Volume: 57; Journal Issue: 6; Other Information: PBD: Dec 1995
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN X CHROMOSOME; GENETIC MAPPING; GENES; PROGENY; MENTAL DISORDERS; NUCLEOTIDES; MUTATIONS; SIZE; SEX DEPENDENCE; DNA; DNA REPLICATION; METHYLATION; PATIENTS; GENETICS

Citation Formats

Loesch, D Z, Huggins, R, and Petrovic, V. Expansion of the CGG repeat in fragile X in the FRM1 gene depends on the sex of the offspring. United States: N. p., 1995. Web.
Loesch, D Z, Huggins, R, & Petrovic, V. Expansion of the CGG repeat in fragile X in the FRM1 gene depends on the sex of the offspring. United States.
Loesch, D Z, Huggins, R, and Petrovic, V. 1995. "Expansion of the CGG repeat in fragile X in the FRM1 gene depends on the sex of the offspring". United States.
@article{osti_186212,
title = {Expansion of the CGG repeat in fragile X in the FRM1 gene depends on the sex of the offspring},
author = {Loesch, D Z and Huggins, R and Petrovic, V},
abstractNote = {Analysis of 139 mother-to-offspring transmissions of fragile X CGG triplet repeats revealed that the repeat expansion is enhanced in mother-to-son transmissions compared with mother-to-daughter transmissions. Evidence has been based on analysis of mother-offspring differences in the size of repeat (in kb), as well as on comparisons between proportions of male and female offspring with premutations, and full mutations, inherited from mothers carrying a premutation. Mean difference in the repeat size from mother-son transmissions was 1.45 kb, compared with mother-daughter transmissions of 0.76 kb. The difference is due primarily to a greater proportion of male than female offspring with full mutation from the premutation mothers and also to a higher frequency of reduction in repeat size from mothers to daughters than from mothers to sons. Our findings suggest the possibility of an interaction of the normal X homologue in a female zygote with the FMR1 sequence on the fragile X during replication to account for the lower level of expansion in mother-to-daughter transmissions relative to mother-to-son transmissions. 27 refs., 3 figs., 2 tabs.},
doi = {},
url = {https://www.osti.gov/biblio/186212}, journal = {American Journal of Human Genetics},
number = 6,
volume = 57,
place = {United States},
year = {Fri Dec 01 00:00:00 EST 1995},
month = {Fri Dec 01 00:00:00 EST 1995}
}