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- Title
QTL on mouse chromosomes 1 and 4 causing sperm-head morphological abnormality and male subfertility.
- Authors
Gotoh, Hideo; Hirawatari, Keitaro; Hanzawa, Naoto; Miura, Ikuo; Wakana, Shigeharu
- Abstract
The B10.M mouse strain represents a model for male subfertility as it produces a significantly low number of offspring. The only known male reproductive phenotype of this strain is its high frequency of sperm-head morphological abnormalities (44.7 ± 2.4 %). We previously reported that this phenotype was the product of two recessive loci. In this study we mapped the loci causing the high frequency of sperm-head morphological abnormalities in this strain using F2 animals produced by crossing B10.M and C3H mice. Quantitative trait loci (QTL) analysis ( n = 178) identified two recessive genes, one on Chromosome (Chr) 1 (LOD score = 30.585) and one on Chr 4 (LOD score = 4.532). Further analysis ( n = 854) mapped the locus on Chr 1 between Ercc5 (23.55 cM) and D1Mit528 (25.95 cM) and the locus on Chr 4 between D4Mit148 (69.48 cM) and D4Mit170 (70.47 cM). It was also found that the effects of these two loci were not independent. The major locus on Chr 1 determines the expression of sperm-head abnormalities, while the locus on Chr 4 enhances the frequency of abnormalities only when the genotype of the Chr 1 locus is homozygous for the B10.M allele. The major locus on Chr 1 was named sperm-head morphology 1 ( Shm1), while the modifier locus on Chr 4 was named sperm-head morphology 2 ( Shm2).
- Subjects
CHROMOSOME abnormalities; LABORATORY mice; QUANTITATIVE research; GENOTYPE-environment interaction; GENE frequency; LOCUS (Genetics); PHENOTYPES
- Publication
Mammalian Genome, 2012, Vol 23, Issue 7/8, p399
- ISSN
0938-8990
- Publication type
Article
- DOI
10.1007/s00335-012-9395-1