PMID- 11543625
OWN - NLM
STAT- MEDLINE
DCOM- 20011204
LR  - 20211203
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 77
IP  - 1-2
DP  - 2001 Sep
TI  - STK25 is a candidate gene for pseudopseudohypoparathyroidism.
PG  - 2-4
AB  - We determined the chromosomal location of the mouse gene Stk25, encoding a member 
      of the Ste20/PAK family of serine/threonine kinases, by interspecific backcross 
      analysis. We mapped Stk25 to the central region of mouse chromosome 1 linked to 
      Chrng (formerly Acrg) and En1. This central region of mouse chromosome 1 shares a 
      region of homology with the long arm of human chromosome 2, suggesting that the 
      human homologue of Stk25 would also map to 2q. We proved this prediction of 
      syntenic homology correct by mapping human STK25 to 2q37. Deletion of the 2q37 
      region has been implicated in the expression of pseudopseudohypoparathyroidism 
      (PPHP), a disease which shares features of the Albright hereditary osteodystrophy 
      (AHO) phenotype. To investigate a pathogenetic relationship between STK25 and 
      PPHP, we carried out fluorescence in situ hybridization (FISH) using an STK25 
      gene probe and chromosomes from PPHP patients characterized as having small 
      deletions near the distal end of 2q. PPHP patient DNA showed no hybridization to 
      STK25 genomic DNA, indicating that STK25 is contained within the deleted 
      chromosomal region. This finding, in conjunction with previous studies 
      demonstrating the role of Ste20/PAK kinases in heterotrimeric G protein 
      signaling, suggests that STK25 is a positional candidate gene for PPHP.
FAU - Davids, M S
AU  - Davids MS
AD  - Cell Signaling Technology, Beverly, Massachusetts 01915, USA.
FAU - Crawford, E
AU  - Crawford E
FAU - Weremowicz, S
AU  - Weremowicz S
FAU - Morton, C C
AU  - Morton CC
FAU - Copeland, N G
AU  - Copeland NG
FAU - Gilbert, D J
AU  - Gilbert DJ
FAU - Jenkins, N A
AU  - Jenkins NA
FAU - Phelan, M C
AU  - Phelan MC
FAU - Comb, M J
AU  - Comb MJ
FAU - Melnick, M B
AU  - Melnick MB
LA  - eng
SI  - GENBANK/AF004934
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (Saccharomyces cerevisiae Proteins)
RN  - EC 2.7.11.1 (Protein Serine-Threonine Kinases)
RN  - EC 2.7.11.25 (MAP Kinase Kinase Kinases)
RN  - EC 2.7.11.25 (STE20 protein, S cerevisiae)
SB  - IM
MH  - Animals
MH  - Chromosome Deletion
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 2/genetics
MH  - Female
MH  - Genetic Predisposition to Disease/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intracellular Signaling Peptides and Proteins
MH  - MAP Kinase Kinase Kinases
MH  - Male
MH  - Mice
MH  - Mice, Inbred C57BL
MH  - Molecular Sequence Data
MH  - Muridae
MH  - Protein Serine-Threonine Kinases/*genetics
MH  - Pseudopseudohypoparathyroidism/enzymology/*genetics
MH  - *Saccharomyces cerevisiae Proteins
EDAT- 2001/09/07 10:00
MHDA- 2002/01/05 10:01
CRDT- 2001/09/07 10:00
PHST- 2001/09/07 10:00 [pubmed]
PHST- 2002/01/05 10:01 [medline]
PHST- 2001/09/07 10:00 [entrez]
AID - S0888-7543(01)96605-4 [pii]
AID - 10.1006/geno.2001.6605 [doi]
PST - ppublish
SO  - Genomics. 2001 Sep;77(1-2):2-4. doi: 10.1006/geno.2001.6605.