PMID- 12379852
OWN - NLM
STAT- MEDLINE
DCOM- 20021224
LR  - 20211203
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 32
IP  - 3
DP  - 2002 Nov
TI  - Mutation of ARX causes abnormal development of forebrain and testes in mice and 
      X-linked lissencephaly with abnormal genitalia in humans.
PG  - 359-69
AB  - Male embryonic mice with mutations in the X-linked aristaless-related homeobox 
      gene (Arx) developed with small brains due to suppressed proliferation and 
      regional deficiencies in the forebrain. These mice also showed aberrant migration 
      and differentiation of interneurons containing gamma-aminobutyric acid (GABAergic 
      interneurons) in the ganglionic eminence and neocortex as well as abnormal 
      testicular differentiation. These characteristics recapitulate some of the 
      clinical features of X-linked lissencephaly with abnormal genitalia (XLAG) in 
      humans. We found multiple loss-of-function mutations in ARX in individuals 
      affected with XLAG and in some female relatives, and conclude that mutation of 
      ARX causes XLAG. The present report is, to our knowledge, the first to use 
      phenotypic analysis of a knockout mouse to identify a gene associated with an 
      X-linked human brain malformation.
FAU - Kitamura, Kunio
AU  - Kitamura K
AD  - Mitsubishi Kagaku Institute of Life Sciences, 11 Minamiooya, Machida, Tokyo 
      194-8511, Japan. kunio@libra.ls.m-kagaku.co.jp
FAU - Yanazawa, Masako
AU  - Yanazawa M
FAU - Sugiyama, Noriyuki
AU  - Sugiyama N
FAU - Miura, Hirohito
AU  - Miura H
FAU - Iizuka-Kogo, Akiko
AU  - Iizuka-Kogo A
FAU - Kusaka, Masatomo
AU  - Kusaka M
FAU - Omichi, Kayo
AU  - Omichi K
FAU - Suzuki, Rika
AU  - Suzuki R
FAU - Kato-Fukui, Yuko
AU  - Kato-Fukui Y
FAU - Kamiirisa, Kyoko
AU  - Kamiirisa K
FAU - Matsuo, Mina
AU  - Matsuo M
FAU - Kamijo, Shin-ichi
AU  - Kamijo S
FAU - Kasahara, Megumi
AU  - Kasahara M
FAU - Yoshioka, Hidefumi
AU  - Yoshioka H
FAU - Ogata, Tsutomu
AU  - Ogata T
FAU - Fukuda, Takayuki
AU  - Fukuda T
FAU - Kondo, Ikuko
AU  - Kondo I
FAU - Kato, Mitsuhiro
AU  - Kato M
FAU - Dobyns, William B
AU  - Dobyns WB
FAU - Yokoyama, Minesuke
AU  - Yokoyama M
FAU - Morohashi, Ken-ichirou
AU  - Morohashi K
LA  - eng
SI  - GENBANK/AB006103
SI  - GENBANK/AC002504
SI  - GENBANK/AY038071
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
DEP - 20021015
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (ARX protein, human)
RN  - 0 (ARX protein, mouse)
RN  - 0 (DNA, Complementary)
RN  - 0 (Dcx protein, mouse)
RN  - 0 (Doublecortin Protein)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (Transcription Factors)
RN  - G34N38R2N1 (Bromodeoxyuridine)
SB  - IM
CIN - Nat Genet. 2002 Nov;32(3):341-2. PMID: 12410228
MH  - Alleles
MH  - Amino Acid Sequence
MH  - Animals
MH  - Apoptosis
MH  - Base Sequence
MH  - Brain/abnormalities/pathology
MH  - Bromodeoxyuridine/pharmacology
MH  - Cell Differentiation
MH  - Cell Division
MH  - Cell Movement
MH  - DNA, Complementary/metabolism
MH  - Doublecortin Protein
MH  - Epithelial Cells/metabolism
MH  - *Genetic Linkage
MH  - Genetic Vectors
MH  - Genitalia/*abnormalities
MH  - Homeodomain Proteins/*genetics/*physiology
MH  - Humans
MH  - Immunohistochemistry
MH  - Male
MH  - Mice
MH  - Mice, Knockout
MH  - Microscopy, Fluorescence
MH  - Models, Genetic
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Neurons/metabolism/pathology
MH  - Phenotype
MH  - Prosencephalon/*abnormalities
MH  - Syndrome
MH  - Testis/*abnormalities/pathology
MH  - Transcription Factors/*genetics/*physiology
MH  - Transfection
MH  - X Chromosome/*genetics
EDAT- 2002/10/16 04:00
MHDA- 2002/12/27 04:00
CRDT- 2002/10/16 04:00
PHST- 2002/03/05 00:00 [received]
PHST- 2002/09/09 00:00 [accepted]
PHST- 2002/10/16 04:00 [pubmed]
PHST- 2002/12/27 04:00 [medline]
PHST- 2002/10/16 04:00 [entrez]
AID - ng1009 [pii]
AID - 10.1038/ng1009 [doi]
PST - ppublish
SO  - Nat Genet. 2002 Nov;32(3):359-69. doi: 10.1038/ng1009. Epub 2002 Oct 15.