Analysis of LHX8 mutation in premature ovarian failure

被引:37
作者
Qin, Yingying [1 ,2 ]
Zhao, Han [1 ,2 ]
Kovanci, Ertug [1 ]
Simpson, Joe Leigh [3 ,4 ]
Chen, Zi-Jiang [2 ]
Rajkovic, Aleksandar [1 ]
机构
[1] Baylor Coll Med, Dept Obstet & Gynecol, Houston, TX 77030 USA
[2] Shandong Univ, Ctr Reprod Med, Shandong Prov Hosp, Jinan 250100, Peoples R China
[3] Florida Int Univ, Coll Med, Dept Human & Mol Genet, Miami, FL 33199 USA
[4] Florida Int Univ, Coll Med, Dept Obstet & Gynecol, Miami, FL 33199 USA
关键词
D O I
10.1016/j.fertnstert.2007.04.017
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
The LHX8 (LIM homeobox 8) gene encodes a LIM homeodomain transcriptional regulator that is preferentially expressed in germ cells and critical for mammalian oogenesis. The authors investigated whether nucleotide changes were present in the LHX8 gene of Caucasian women with premature ovarian failure (POF), as compared with control women. When the authors sequenced 95 Caucasian women with POF, they discovered two novel single-nucleotide polymorphisms (SNPs) in intron 3 (c.769+10G>T) and 3' untranslated region (c.1787A>G) of the LHX8 gene. These polymorphisms also were found in controls (n = 94), at frequencies that were not statistically different from. those in POF women. Mutations in the LHX8 exons are uncommon in Caucasian women with POF. (Fertil Steril (R) 2008;89:1012-4. (c) 2008 by American Society for Reproductive Medicine.)
引用
收藏
页码:1012 / 1014
页数:3
相关论文
共 17 条
[1]   MUTATION IN THE FOLLICLE-STIMULATING-HORMONE RECEPTOR GENE CAUSES HEREDITARY HYPERGONADOTROPIC OVARIAN FAILURE [J].
AITTOMAKI, K ;
LUCENA, JLD ;
PAKARINEN, P ;
SISTONEN, P ;
TAPANAINEN, J ;
GROMOLL, J ;
KASKIKARI, R ;
SANKILA, EM ;
LEHVASLAIHO, H ;
ENGEL, AR ;
NIESCHLAG, E ;
HUHTANIEMI, I ;
DELACHAPELLE, A .
CELL, 1995, 82 (06) :959-968
[2]  
COULAM CB, 1986, OBSTET GYNECOL, V67, P604
[3]   A novel 30 bp deletion in the FOXL2 gene in a phenotypically normal woman with primary amenorrhoea:: Case report [J].
Gersak, K ;
Harris, SE ;
Smale, WJ ;
Shelling, AN .
HUMAN REPRODUCTION, 2004, 19 (12) :2767-2770
[4]   INHA promoter polymorphisms are associated with premature ovarian failure [J].
Harris, SE ;
Chand, AL ;
Winship, IM ;
Gersak, K ;
Nishi, Y ;
Yanase, T ;
Nawata, H ;
Shelling, AN .
MOLECULAR HUMAN REPRODUCTION, 2005, 11 (11) :779-784
[5]   Functions of LIM-homeobox genes [J].
Hobert, O ;
Westphal, H .
TRENDS IN GENETICS, 2000, 16 (02) :75-83
[6]   Structure and chromosomal localization of a murine LIM/homeobox gene, Lhx8 [J].
Kitanaka, JI ;
Takemura, M ;
Matsumoto, K ;
Mori, T ;
Wanaka, A .
GENOMICS, 1998, 49 (02) :307-309
[7]   Growth differentiating factor-9 mutations may be associated with premature ovarian failure [J].
Kovanci, Ertug ;
Rohozinski, Jan ;
Simpson, Joe Leigh ;
Heard, Michael J. ;
Bishop, Colin E. ;
Carson, Sandra A. .
FERTILITY AND STERILITY, 2007, 87 (01) :143-146
[8]   Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure [J].
Lacombe, Arnaud ;
Lee, Hane ;
Zahed, Laila ;
Choucair, Mahmoud ;
Muller, Jean-Marc ;
Nelson, Stanley F. ;
Salameh, Wael ;
Vilain, Eric .
AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (01) :113-119
[9]   Oogenesis requires germ cell-specific transcriptional regulators Sohlh1 and Lhx8 [J].
Pangas, Stephanie A. ;
Choi, Youngsok ;
Ballow, Daniel J. ;
Zhao, Yangu ;
Westphal, Heiner ;
Matzuk, Martin M. ;
Rajkovic, Aleksandar .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (21) :8090-8095
[10]  
Simpson JL, 1999, AM J MED GENET, V89, P186, DOI 10.1002/(SICI)1096-8628(19991229)89:4<186::AID-AJMG3>3.0.CO