PMID- 20453437
OWN - NLM
STAT- MEDLINE
DCOM- 20101116
LR  - 20190608
IS  - 0916-8818 (Print)
IS  - 0916-8818 (Linking)
VI  - 56
IP  - 4
DP  - 2010 Aug
TI  - Analysis of single nucleotide polymorphisms in the 3' region of the estrogen 
      receptor 1 gene in normal and cryptorchid Miniature Dachshunds and Chihuahuas.
PG  - 405-10
AB  - This study was performed to examine the distribution of single nucleotide 
      polymorphisms (SNPs) and estimated haplotypes in the canine estrogen receptor 
      (ER) alpha gene (ESR1) and the association of them with different phenotypes of 
      cryptorchidism (CO) in Miniature Dachshunds and Chihuahuas. Forty CO and 68 
      normal dogs were used, and CO was classified into unilateral (UCO; n=33) and 
      bilateral CO (BCO; n=5) or into abdominal (ACO; n=16) and inguinal CO (ICO; 
      n=22). Thirteen DNA fragments located in the 70-kb region at the 3' end of ESR1 
      were amplified by PCR and sequenced to examine 13 SNPs (#1-#13) reported in a 
      canine SNP database. Ten SNPs (#1-#4, #7, #8, #10-#13) were not polymorphic, and 
      5 new SNPs (#14-#18) were discovered. A common haplotype block in normal, CO and 
      CO phenotypes was identified for an approximately 20-kb region encompassing 4 
      SNPs (#14-#17). Allele, genotype and haplotype frequencies in CO without 
      classification by phenotype and also in UCO, ACO and ICO phenotypes were not 
      statistically different from the normal group. Significant differences in 
      genotype frequencies and homozygosity for the estimated GTTG haplotype within the 
      block were observed in BCO compared with the normal group, although the number of 
      BCO animals was small. Our results demonstrate that the examined SNPs and 
      haplotypes in the 3' end of canine ESR1 are not associated with unilateral, 
      abdominal and inguinal CO phenotypes and CO per se in Miniature Dachshunds and 
      Chihuahuas. Further studies are necessary to suggest a clear association between 
      the ESR1 SNPs and bilateral CO in dogs.
FAU - Pathirana, Indunil Nishantha
AU  - Pathirana IN
AD  - Department of Advanced Pathobiology, Graduate School of Life and Environmental 
      Sciences, Osaka Prefecture University, Osaka, Japan.
FAU - Tanaka, Kakeru
AU  - Tanaka K
FAU - Kawate, Noritoshi
AU  - Kawate N
FAU - Tsuji, Makoto
AU  - Tsuji M
FAU - Kida, Kayoko
AU  - Kida K
FAU - Hatoya, Shingo
AU  - Hatoya S
FAU - Inaba, Toshio
AU  - Inaba T
FAU - Tamada, Hiromichi
AU  - Tamada H
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20100428
PL  - Japan
TA  - J Reprod Dev
JT  - The Journal of reproduction and development
JID - 9438792
RN  - 0 (Estrogen Receptor alpha)
SB  - IM
MH  - 3' Flanking Region/*genetics
MH  - Animals
MH  - Case-Control Studies
MH  - Cryptorchidism/*genetics/veterinary
MH  - DNA Mutational Analysis
MH  - Dogs/*genetics
MH  - Estrogen Receptor alpha/*genetics
MH  - Gene Frequency
MH  - Haplotypes
MH  - Linkage Disequilibrium
MH  - Male
MH  - Pedigree
MH  - Phenotype
MH  - Polymorphism, Restriction Fragment Length
MH  - *Polymorphism, Single Nucleotide
MH  - Species Specificity
EDAT- 2010/05/11 06:00
MHDA- 2010/11/17 06:00
CRDT- 2010/05/11 06:00
PHST- 2010/05/11 06:00 [entrez]
PHST- 2010/05/11 06:00 [pubmed]
PHST- 2010/11/17 06:00 [medline]
AID - JST.JSTAGE/jrd/09-195T [pii]
AID - 10.1262/jrd.09-195t [doi]
PST - ppublish
SO  - J Reprod Dev. 2010 Aug;56(4):405-10. doi: 10.1262/jrd.09-195t. Epub 2010 Apr 28.