Primary screening of single nucleotide polymorphisms in human Calreticulin 3 (CALR3)

Shinji Irie, Junko Nakamura, Yasushi Miyagawa, Akira Tsujimura, Hidenobu Okuda, Keisuke Yamamoto, Shinichiro Fukuhara, Iwao Yoshioka, Kiuchi Hiroshi, Yasuhiro Matsuoka, Tetsuya Takao, Norio Nonomura, Masahito Ikawa, Keizo Tokuhiro, Masaru Okabe, Tomomi Shibata, Kyoko Fujimoto, Morimasa Wada, Hiromitsu Tanaka

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3 Citations (Scopus)

Abstract

Calreticulin 3 (CALR3) is considered a candidate gene in human male infertility because male, but not female, CALR3-deficient mice are infertile. To investigate the possible association between variations in CALR3 and impaired spermatogenesis in humans, we screened for mutations in human CALR3 using DNA from 892 infertile male patients and 167 proven-fertile male volunteers. The frequent appearance of several single nucleotide polymorphisms (SNPs), including 742G>T (Asp248Tyr), 976G>A (Asp326Asn), and 1058A>T (Lys353Met), were found in the infertile group by direct sequencing of amplified fragments using the same primers as for polymerase chain reaction. Our results indicate that three major SNPs associated with male infertility exist in the open reading frame of CALR3.

Original languageEnglish
Pages (from-to)30-35
Number of pages6
JournalThe Open Andrology Journal
Volume3
DOIs
Publication statusPublished - 2011
Externally publishedYes

Keywords

  • Fusion
  • Genome
  • Male infertility
  • SNPs
  • Sperm

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