Abstract
A common LH variant (V-LH) with Trp8Arg and Ile15Thr is often associated with ovarian dysfunction primarily in the Japanese population, and the LHB gene encoding V-LH is linked with a hyperfunctional promoter that could partly compensate for the somewhat weak biological effect of the V-LH in the Finnish and other several populations. We analyzed the promoter region in a Japanese infertile woman homozygous for the V-LH, to examine whether the hyperfunctional promoter is present or absent in the Japanese V-LH carriers with ovarian dysfunction. Direct sequencing was performed for a 661 bp promoter region from -8 to -668 bp of LHB, revealing homozygosity for eight nucleotide substitutions (-238A>G, -276G>A, -489C>A, -490T>A, -504T>A, -506T>C, -525T>G, and -552C>T) that are identical to those found in the hyperfunctional promoter. The results suggest that ovarian dysfunction frequently observed in the Japanese V-LH carriers would be due to some population-specific genetic and/or environmental factor(s) rather than to the lack of the hyperfunctional promoter and the resultant low biological effect of the V-LH. In addition, the tight linkage between the two missense substitutions in the coding region and the eight nucleotide substitutions in the promoter region of LHB appears to be common to various ethnic groups.
| Original language | English |
|---|---|
| Pages (from-to) | 781-784 |
| Number of pages | 4 |
| Journal | Endocrine Journal |
| Volume | 52 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - 2005 |
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Keywords
- LH variant
- Ovarian dysfunction
- Promoter sequence
- Trp8Arg and Ile15Thr
ASJC Scopus subject areas
- Endocrinology
Cite this
Association of common LH variant with hyperfunctional promoter in a Japanese infertile woman. / Liu, Shunyu; Ogata, Tsutomu; Maruyama, Tetsuo; Yoshimura, Yasunori; Ishizuka, Bunpei.
In: Endocrine Journal, Vol. 52, No. 6, 2005, p. 781-784.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Association of common LH variant with hyperfunctional promoter in a Japanese infertile woman
AU - Liu, Shunyu
AU - Ogata, Tsutomu
AU - Maruyama, Tetsuo
AU - Yoshimura, Yasunori
AU - Ishizuka, Bunpei
PY - 2005
Y1 - 2005
N2 - A common LH variant (V-LH) with Trp8Arg and Ile15Thr is often associated with ovarian dysfunction primarily in the Japanese population, and the LHB gene encoding V-LH is linked with a hyperfunctional promoter that could partly compensate for the somewhat weak biological effect of the V-LH in the Finnish and other several populations. We analyzed the promoter region in a Japanese infertile woman homozygous for the V-LH, to examine whether the hyperfunctional promoter is present or absent in the Japanese V-LH carriers with ovarian dysfunction. Direct sequencing was performed for a 661 bp promoter region from -8 to -668 bp of LHB, revealing homozygosity for eight nucleotide substitutions (-238A>G, -276G>A, -489C>A, -490T>A, -504T>A, -506T>C, -525T>G, and -552C>T) that are identical to those found in the hyperfunctional promoter. The results suggest that ovarian dysfunction frequently observed in the Japanese V-LH carriers would be due to some population-specific genetic and/or environmental factor(s) rather than to the lack of the hyperfunctional promoter and the resultant low biological effect of the V-LH. In addition, the tight linkage between the two missense substitutions in the coding region and the eight nucleotide substitutions in the promoter region of LHB appears to be common to various ethnic groups.
AB - A common LH variant (V-LH) with Trp8Arg and Ile15Thr is often associated with ovarian dysfunction primarily in the Japanese population, and the LHB gene encoding V-LH is linked with a hyperfunctional promoter that could partly compensate for the somewhat weak biological effect of the V-LH in the Finnish and other several populations. We analyzed the promoter region in a Japanese infertile woman homozygous for the V-LH, to examine whether the hyperfunctional promoter is present or absent in the Japanese V-LH carriers with ovarian dysfunction. Direct sequencing was performed for a 661 bp promoter region from -8 to -668 bp of LHB, revealing homozygosity for eight nucleotide substitutions (-238A>G, -276G>A, -489C>A, -490T>A, -504T>A, -506T>C, -525T>G, and -552C>T) that are identical to those found in the hyperfunctional promoter. The results suggest that ovarian dysfunction frequently observed in the Japanese V-LH carriers would be due to some population-specific genetic and/or environmental factor(s) rather than to the lack of the hyperfunctional promoter and the resultant low biological effect of the V-LH. In addition, the tight linkage between the two missense substitutions in the coding region and the eight nucleotide substitutions in the promoter region of LHB appears to be common to various ethnic groups.
KW - LH variant
KW - Ovarian dysfunction
KW - Promoter sequence
KW - Trp8Arg and Ile15Thr
UR - http://www.scopus.com/inward/record.url?scp=30844455788&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=30844455788&partnerID=8YFLogxK
U2 - 10.1507/endocrj.52.781
DO - 10.1507/endocrj.52.781
M3 - Article
C2 - 16410673
AN - SCOPUS:30844455788
VL - 52
SP - 781
EP - 784
JO - Endocrine Journal
JF - Endocrine Journal
SN - 0918-8959
IS - 6
ER -