Table 1 Comparison of biallelic BRCA1 variant carriers regarding their genotype, phenotype, rescue mechanisms and classification of the detected variants1 Full size tablePreviously reported variants with residual function from dual in trans BRCA1
If the individual also carries a damaged X chromosome, we assume that this imposes an additional cost that affects reproductive success. To calculate the overall fitness of the genotype, the fitness value associated with carrying the damaged X chromosome is multiplied by the fitness value associated ...
MTHFR C677T polymorphism associates with unexplained infertile male factors PURPOSE: To determine whether 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) genotype is associated with male infert...
In addition, the FSHB -211G/T polymorphism showed a total testosterone downward trend that became more evident in men with the TT genotype compared to subjects with the GG genotype (p=0.05). Furthermore, we found a trend towards decreased sperm concentration, total sperm count, sperm forward ...
Male Eastern Box Turtles exhibited a dual peak in TT. Elevated TT in males was significantly associated with observed sexual behaviors and smaller home ranges. Body condition had no effect on the concentration of TT or E2 in either sex. This is the first study to (1) document Vtg and sex...
Total ERK2 levels did not differ by sex but were significantly elevated solely in del/+ females compared with WT females (Figure 6), replicating our prior finding (Figure 5). We next asked how sex interacted with genotype to influence the previously observed differences in basal ERK ...
A 47,XXY karyotype is one mechanism by which males may survive the effects of inheriting a lethal IP mutation, since this establishes a heterozygous genotype that is compatible with survival. Several cases of IP have been reported in 47,XXY patients (Kunze et al. 1977; Ormerod et al. 1987...
We then PCR amplified the cho-1 promoter with the primers 5'-TCCCCGCGGATACTTCAATTATTCCCGTCTTACCAGG-3' and 5' '-TCCCCGCGGTAAGATAGAGGAACTCGCAAGATGTCG-3', digested with SacII, and cloned into the SacII site carried over to pBR322 and checked the orientation. To make int2itr-1::UNC-18...
with: CATSPERδ Genotype: 1–/– wt 97 CATSPERβ 97 CATSPERδ 64 64 Input: CATSPER1 α-Tubulin Sperm 106 cells per lane 1–/– wt 191 97 CATSPERδ 64 51 39 α-δ786 Testis microsome Genotype: 3 –/– 4 –/– 1–/– wt 97 CATSPERβ CATSPER1 64 51 α-Tubulin Figure 3 ...
The Ms Ms individuals produce seed of genotype Ms Ms with probability s + t1(w1h1 + h2/2) /D and seed of genotype Ms ms with probability t1h2/2D. Similar arguments for the other two genotypes lead to the following transition equations, where h, h and f' are the new genotypic ...