Genome-Wide Association Mapping for Female Infertility in Inbred Mice
| Autor: | Miao Zhao, Ji-Long Liu, Tong-Song Wang |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Single-nucleotide polymorphism Genome-wide association study Investigations QH426-470 Biology Polymorphism Single Nucleotide Marker gene Mice 03 medical and health sciences Phosphoinositide Phospholipase C Decidua Genetics medicine Animals Humans SNP Female infertility Embryo Implantation Genome-wide association mapping Molecular Biology Gene Genetics (clinical) PLCE1 Inbred mice Microfilament Proteins Uterus Decidualization Chromosome Mapping Cell Differentiation medicine.disease Introns Prolactin 030104 developmental biology Female Infertility Female Genome-Wide Association Study |
| Zdroj: | G3: Genes, Genomes, Genetics, Vol 6, Iss 9, Pp 2929-2935 (2016) G3: Genes|Genomes|Genetics |
| ISSN: | 2160-1836 |
| DOI: | 10.1534/g3.116.031575 |
| Popis: | The genetic factors underlying female infertility in humans are only partially understood. Here, we performed a genome-wide association study of female infertility in 25 inbred mouse strains by using publicly available SNP data. As a result, a total of four SNPs were identified after chromosome-wise multiple test correction. The first SNP rs29972765 is located in a gene desert on chromosome 18, about 72 kb upstream of Skor2 (SKI family transcriptional corepressor 2). The second SNP rs30415957 resides in the intron of Plce1 (phospholipase C epsilon 1). The remaining two SNPs (rs30768258 and rs31216810) are close to each other on chromosome 19, in the vicinity of Sorbs1 (sorbin and SH3 domain containing 1). Using quantitative RT-PCR, we found that Sorbs1 is highly expressed in the mouse uterus during embryo implantation. Knockdown of Sorbs1 by siRNA attenuates the induction of differentiation marker gene Prl8a2 (decidual prolactin-related protein) in an in vitro model of decidualization using mouse endometrial stromal cells, suggesting that Sorbs1 may be a potential candidate gene for female infertility in mice. Our results may represent an opportunity to further understand female infertility in humans. |
| Databáze: | OpenAIRE |
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