Edinburgh Research Archive >
Biological Sciences, School of >
Biological Sciences publications >
Please use this identifier to cite or link to this item:
|Title: ||A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome|
|Authors: ||Guy, Jacky|
Martin, Joanne E
Bird, Adrian P
|Issue Date: ||Mar-2001|
|Citation: ||Guy J, Hendrich B, Holmes M, Martin JE, Bird A, NATURE GENETICS, 27 (3): 322-326 MAR 2001|
|Publisher: ||Nature Publishing Group|
|Abstract: ||Rett syndrome (RTT) is an inherited neurodevelopmental disorder
of females that occurs once in 10,000–15,000 births1,2.
Affected females develop normally for 6–18 months, but then
lose voluntary movements, including speech and hand skills.
Most RTT patients are heterozygous for mutations in the Xlinked
gene MECP2 (refs. 3–12), encoding a protein that binds
to methylated sites in genomic DNA and facilitates gene silencing13–
17. Previous work with Mecp2-null embryonic stem cells
indicated that MeCP2 is essential for mouse embryogenesis18.
Here we generate mice lacking Mecp2 using Cre-loxP technology.
Both Mecp2-null mice and mice in which Mecp2 was
deleted in brain showed severe neurological symptoms at
approximately six weeks of age. Compensation for absence of
MeCP2 in other tissues by MeCP1 (refs. 19,20) was not apparent
in genetic or biochemical tests. After several months, heterozygous
female mice also showed behavioral symptoms. The overlapping
delay before symptom onset in humans and mice,
despite their profoundly different rates of development, raises
the possibility that stability of brain function, not brain development
per se, is compromised by the absence of MeCP2.|
|Appears in Collections:||Biological Sciences publications|
Items in ERA are protected by copyright, with all rights reserved, unless otherwise indicated.