PMID- 10644430
OWN - NLM
STAT- MEDLINE
DCOM- 20000302
LR  - 20111117
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 62
IP  - 3
DP  - 1999 Dec 15
TI  - A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with 
      complex X-linked mental retardation.
PG  - 332-43
AB  - Large deletions in Xq21 often are associated with contiguous gene syndromes
      consisting of X-linked deafness type 3 (DFN3), mental retardation (MRX), and
      choroideremia (CHM). The identification of deletions associated with classic CHM 
      or DFN3 facilitated the positional cloning of the underlying genes, REP-1 and
      POU3F4, respectively, and enabled the positioning of the MRX gene in between
      these genes. Here, we report the cloning and characterization of a novel gene,
      ribosomal S6-kinase 4 (RSK4; HGMW-approved symbol RPS6KA6), which maps in the MRX
      critical region. RSK4 is completely deleted in eight patients with the contiguous
      gene syndrome including MRX, partially deleted in a patient with DFN3 and present
      in patients with an Xq21 deletion and normal intellectual abilities. RSK4 is most
      abundantly expressed in brain and kidney. The predicted protein of 746 amino
      acids shows a high level of homology to three previously isolated members of the 
      human RSK family. RSK2 is involved in Coffin-Lowry syndrome and nonspecific MRX. 
      The localization of RSK4 in the interval that is commonly deleted in mentally
      retarded males together with the high degree of amino acid identity with RSK2
      suggests that RSK4 plays a role in normal neuronal development. Further mutation 
      analyses in males with X-linked mental retardation must prove that RSK4 is indeed
      a novel MRX gene.
CI  - Copyright 1999 Academic Press.
FAU - Yntema, H G
AU  - Yntema HG
AD  - Department of Human Genetics, University Hospital Nijmegen, Nijmegen, 6500 HB,
      The Netherlands.
FAU - van den Helm, B
AU  - van den Helm B
FAU - Kissing, J
AU  - Kissing J
FAU - van Duijnhoven, G
AU  - van Duijnhoven G
FAU - Poppelaars, F
AU  - Poppelaars F
FAU - Chelly, J
AU  - Chelly J
FAU - Moraine, C
AU  - Moraine C
FAU - Fryns, J P
AU  - Fryns JP
FAU - Hamel, B C
AU  - Hamel BC
FAU - Heilbronner, H
AU  - Heilbronner H
FAU - Pander, H J
AU  - Pander HJ
FAU - Brunner, H G
AU  - Brunner HG
FAU - Ropers, H H
AU  - Ropers HH
FAU - Cremers, F P
AU  - Cremers FP
FAU - van Bokhoven, H
AU  - van Bokhoven H
LA  - eng
SI  - GENBANK/AF184965
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (Ribosomal Protein S6)
RN  - 0 (Ribosomal Proteins)
RN  - EC 2.7.- (Phosphotransferases)
RN  - EC 2.7.11.1 (Ribosomal Protein S6 Kinases)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Blotting, Northern
MH  - Choroideremia/*genetics
MH  - Chromosome Mapping
MH  - Cloning, Molecular
MH  - DNA Mutational Analysis
MH  - Deafness/genetics
MH  - Gene Expression
MH  - Genetic Testing
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Molecular Sequence Data
MH  - Phosphotransferases/*genetics
MH  - Polymerase Chain Reaction
MH  - Ribosomal Protein S6
MH  - Ribosomal Protein S6 Kinases/*genetics
MH  - Ribosomal Proteins/*metabolism
MH  - Sequence Analysis, DNA
MH  - Sequence Deletion/*genetics
MH  - Sequence Homology, Amino Acid
MH  - X Chromosome/genetics
EDAT- 2000/01/25 09:00
MHDA- 2000/03/04 09:00
CRDT- 2000/01/25 09:00
PHST- 2000/01/25 09:00 [pubmed]
PHST- 2000/03/04 09:00 [medline]
PHST- 2000/01/25 09:00 [entrez]
AID - 10.1006/geno.1999.6004 [doi]
AID - S0888-7543(99)96004-4 [pii]
PST - ppublish
SO  - Genomics. 1999 Dec 15;62(3):332-43. doi: 10.1006/geno.1999.6004.