Lethality of heterozygotes betweent-haplotype complementation groups of mouse: sex-related effect on lethality oft6/tw5heterozygotes

Bechtol, Kathleen B.

doi:10.1017/s0016672300020759

Cited by 12 publications

(11 citation statements)

References 20 publications

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“…Heterozygosity for supertypical haplotypes secures heterozygosity at most MHC loci due to the distinct evolutionary histories of 'haplotypes'. Similar to the animal studies, [41][42][43][44][45][46][47] prenatal selection to increase genetic diversity in progeny concerned mainly males in the present study.…”

Section: Discussionsupporting

confidence: 78%

Increased heterozygosity for MHC class II lineages in newborn males

et al. 2002

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Section: Discussionsupporting

confidence: 78%

Increased heterozygosity for MHC class II lineages in newborn males

et al. 2002

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“…Often, /"//* heterozygotes from T/t a x T/t" intercrosses show reduced viability (18% to 85%) relative to their tailless (T/t) sibs (Dunn & Gluecksohn-Shoenheimer, 1943;Dunn, 1956;Smith, 1956;Silagi, 1962;Bennett, 1975;Bechtol, 1982;Shine/al. 1983;Mains, 1986).…”

Section: Introductionmentioning

confidence: 99%

“…In addition, males doubly heterozygous for complementing t haplotypes are sterile (Lyon, 1986). In at least some cases, t a /t" males display mortality in excess of t a /t" females (Dunn & Gluecksohn-Shoenheimer, 1943;Bechtol, 1982).…”

Section: Introductionmentioning

confidence: 99%

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Partial complementation by murinethaplotypes: deficit of males amongt⁶/t^w5double heterozygotes and correlation with transmission-ratio distortion

King

1991

Genet. Res.

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To evaluate whether sex reversal contributes to sex-ratio imbalance among i?/t w5 double heterozygotes, the cross performed by K. B. Bechtol (Genetical Research 39, 1982, 79-84), T/t 6 x T/t wS , was repeated. Significantly more normal-tailed (t 6 /t wS ) females than males were recovered. By contrast, sex ratios were normal among tailless progeny resulting from this cross and among all classes produced by control crosses. Hybridization of a Y-specific DNA probe with genomic DNA from phenotypic females revealed no XY, sex-reversed males. On the genetic backgrounds that generated only moderate transmission distortion of t wS (81-85%), the overall viability of the doubly heterozygous progeny was only 50 % and the sex-ratio skew among this class was strong. However, on a genetic background that displayed extreme t wS transmission (99%), embryonic viability was more than 80% and the sex-ratio imbalance was weak.

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“…Besides encoding polypeptides expressed in the testis (7), the t region contains genes involved in transmission-ratio distortion from the male (11), primary male sex determination (37), and male survival (38). A segment that affects the development of the mammalian embryo according to sex of the transmitting parent has also been mapped to chromosome 17 (30,(39)(40)(41).…”

Section: Discussionmentioning

confidence: 99%

Saturation germ line mutagenesis of the murine t region including a lethal allele at the quaking locus.

Shedlovsky

King

Dove

1988

Proc. Natl. Acad. Sci. U.S.A.

107

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The proximal region of mouse chromosome 17 contains many genes affecting embryonic development, germ cell differentiation, and the immune system. Although the study of natural variation, including t haplotypes, has yielded some information about the function of these genes, spontaneous variants often exhibit manifold genetic effects and are generally not carried on inbred backgrounds. To clearly connect phenotypes with the actions of individual genes, mutants in which genes are altered singly are needed. Therefore, we used a highly efficient point mutagen, N-ethyl-Nnitrosourea, in combination with classical breeding schemes to induce and identify recessive lethal mutations in the tregion. Of 350 mutagenized gametes examined, at least 10 independent recessive embryonic lethal mutations have been identified; an additional two are perinatal lethals. A spontaneous brachyury mutation, TWU, arose on a genetic background that permits high-resolution mapping of the induced recessive mutations against cloned DNA sequences from the t region. One lethal mutation is an allele at the quaking locus. The multiple alleles of quaking and the feasibility of high-resolution mapping permit investigation of the pleiotropic action of this locus in mammalian development.Mammalian developmental biology is challenged by the need to identify specific developmental regulators. Criteria for identifying the genes that encode these regulators might include the following: (i) involvement in the regulative behavior of mammalian embryos (1), (it) pleiotropic gene action (2), (iii) developmental abnormalities caused by both loss-of-function and gain-of-function alleles (3, 4), and (iv) control over the structure of cell-surface macromolecules (5, 6). Loci of this type may lie in the t region, which extends from the brachyury locus (1) through the major histocompatibility complex (H-2) on murine chromosome 17. Genes in this region strongly affect spermiogenesis (7,8) and the immune system (9, 10).The t region has been a rich source of natural genetic variants (haplotypes), which are frequent in natural populations owing to preferential transmission from the male. The inclusion of detrimental or lethal mutations in a t haplotype may be necessary for the haplotype to remain extant in the mouse population (11). Embryological studies of the initial set of t haplotypes indicated that their lethal effects commonly involve transitions in organization (12), but perhaps the embryo is simply sensitive to any defect in cell metabolism at these organizational stages (13).The t region undoubtedly contains genes of great interest for the study of mammalian developmental biology. However, individual t haplotypes are known to contain multiple lesions (14, 15) and differ by 0.6% in DNA sequence from wild type (16). Furthermore, the recombination-suppression property of t haplotypes because of inversion polymorphism (17) locks together this block of chromatin (=24 x 101 base pairs). The natural t variants, thus, do not give ready access to the simple mutat...

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Lethality of heterozygotes betweent-haplotype complementation groups of mouse: sex-related effect on lethality oft⁶/t^w5heterozygotes

Cited by 12 publications

References 20 publications

Increased heterozygosity for MHC class II lineages in newborn males

Increased heterozygosity for MHC class II lineages in newborn males

Partial complementation by murinethaplotypes: deficit of males amongt⁶/t^w5double heterozygotes and correlation with transmission-ratio distortion

Saturation germ line mutagenesis of the murine t region including a lethal allele at the quaking locus.

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Lethality of heterozygotes betweent-haplotype complementation groups of mouse: sex-related effect on lethality oft6/tw5heterozygotes

Cited by 12 publications

References 20 publications

Increased heterozygosity for MHC class II lineages in newborn males

Increased heterozygosity for MHC class II lineages in newborn males

Partial complementation by murinethaplotypes: deficit of males amongt6/tw5double heterozygotes and correlation with transmission-ratio distortion

Saturation germ line mutagenesis of the murine t region including a lethal allele at the quaking locus.

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Lethality of heterozygotes betweent-haplotype complementation groups of mouse: sex-related effect on lethality oft⁶/t^w5heterozygotes

Partial complementation by murinethaplotypes: deficit of males amongt⁶/t^w5double heterozygotes and correlation with transmission-ratio distortion