MEI1 may play a role in meiosis during spermatogenesis, especially in European Americans.
The information of related literatures
1. H. Sato, T. Miyamoto, L. Yogev, M. Namiki, E. Koh, H. Hayashi, Y. Sasaki, M. Ishikawa, D. J. Lamb, N. Matsumoto, O. S. Birk, N. Niikawa and K. Sengoku (2006) Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest. J Hum Genet 51(6): 533-40.
Abstract Genetic mechanisms are implicated as a cause of some male infertility, yet are poorly understood. Mouse meiotic mutant mei1 (meiosis defective 1) was isolated by a screening of infertile mice. Male mei1 mice have azoospermia due to meiotic arrest, and the mouse Mei1 gene is responsible for the mei1 phenotype. To investigate whether human MEI1 gene defects are associated with azoospermia by meiotic arrest, we isolated the human MEI1 cDNA based on the mouse Mei1 amino acid sequence. MEI1 is expressed specifically in the testis. Mutational analysis by direct sequencing of all MEI1 coding regions was performed in 27 men (13 European Americans, 13 Israeli and 1 Japanese) having azoospermia due to complete early meiotic arrest. This identified four novel, coding single-nucleotide-polymorphisms (cSNPs), i.e., SNP1 (T909G), SNP2 (A1582G), SNP3 (C1791A) and SNP4 (C2397T) in exons 4, 8, 9 and 14, respectively. Using these cSNPs, an association study was carried out between 26 non-Japanese patients with azoospermia and two sets of normal control men (61 normal European Americans and 60 Israelis). Consequently, SNP3 and SNP4 were shown to be associated with azoospermia among European Americans (P =0.0289 and P =0.0299 for genotype and allele frequencies at both the polymorphic sites, respectively), although no such association was observed among Israelis (P >0.05). Haplotype estimation revealed that the frequencies of SNP3-SNP4 (C-T), SNP3-SNP4 (A-C) and SNP3-SNP4 (A-T) were higher in the European American patients, and the frequency of SNP3-SNP4 (A-T) was also higher than in both control groups. These results suggest that MEI1 may play a role in meiosis during spermatogenesis, especially in European Americans. PMID: [16683055]
Figures for illustrating the function of this protein/gene
Function
Required for normal meiotic chromosome synapsis. May beinvolved in the formation of meiotic double-strand breaks (DSBs)in spermatocytes (By similarity).
CHAIN 1 1274 Meiosis inhibitor protein 1. /FTId=PRO_0000347264. VAR_SEQ 1 992 Missing (in isoform 7). /FTId=VSP_052883. VAR_SEQ 1 757 Missing (in isoform 5). /FTId=VSP_052884. VAR_SEQ 1 632 Missing (in isoform 2 and isoform 3). /FTId=VSP_052885. VAR_SEQ 445 1274 Missing (in isoform 6). /FTId=VSP_052886. VAR_SEQ 561 569 RHLEQTTHP -> VGSPEPRAT (in isoform 4). /FTId=VSP_052887. VAR_SEQ 570 1274 Missing (in isoform 4). /FTId=VSP_052888. VAR_SEQ 904 938 Missing (in isoform 3). /FTId=VSP_052889. VAR_SEQ 1179 1222 Missing (in isoform 7). /FTId=VSP_052890. VAR_SEQ 1193 1222 Missing (in isoform 5). /FTId=VSP_052891. VARIANT 657 657 E -> Q (in dbSNP:rs17002655). /FTId=VAR_046037. VARIANT 853 853 S -> T (in dbSNP:rs17002665). /FTId=VAR_046038. VARIANT 1049 1049 K -> E (in dbSNP:rs12484839). /FTId=VAR_051184. CONFLICT 367 367 I -> T (in Ref. 4; AAH35720). Back to Top