The genetic basis of murine and human sex determination: a review.


:Determination of mammalian sex depends on the presence or absence of a functional testis. Testes are determined by the activity of the testis determining factor encoded by the sex determining gene, Y (SRY) located on the Y chromosome. Considerable evidence suggests that the SRY gene is the only gene on the Y chromosome that is both necessary and sufficient to initiate testis determination. Other steps in the mammalian sex determining pathway are unknown, although recent advances have shown that mutations in X chromosome and autosomal loci are also associated with sex reversal, suggesting the presence of at least one other sex determining gene. Duplications of sequences on the short arm of the human X chromosome, including the DAX-1 (DSS-AHC critical region on the X chromosome, gene 1) gene, are occasionally associated with XY male-to-female sex reversal. In addition, mutations in the SRY-related gene SOX9 (SRY-related box) are associated with a failure of human testicular determination. Furthermore, the occurrence of inherited sex reversed conditions in both mice and men indicate the presence of at least one other sex determining gene. Breeding the Y chromosome from certain Mus musculus domesticus strains into the laboratory mouse strain C57BL/6J results in XY male-to-female sex reversal. This suggests both allelic variation of the Sry gene and the presence of autosomal sex determining genes. In humans, familial cases of SRY-negative XX males occur. Analysis of the transmission of the trait indicates the segregation of an autosomal or X-linked recessive mutation. The mutation may be in a gene whose wild-type function is to inhibit male sex determination. SRY may trigger male sex determination by repressing or functionally antagonizing the product of this gene.


Heredity (Edinb)




McElreavey K,Barbaux S,Ion A,Fellous M




Has Abstract


1995-12-01 00:00:00








75 ( Pt 6)




  • Genetic differentiation in four European subspecies of red deer (Cervus elaphus L.).

    abstract::Red deer representing the four different European subspecies Cervus elaphus atlanticus, C. e. elaphus, C. e. germanicus, and C. e. scoticus were examined for allozyme variability at 35 enzyme loci. The proportion of polymorphic loci within populations (P) ranged from 0 to 13.8 per cent and the average heterozygosity (...


    pub_type: 杂志文章


    authors: Gyllenstein U,Ryman N,Reuterwall C,Dratch P

    更新日期:1983-12-01 00:00:00

  • Developments in the meiotic analysis of hybrids. I. Review of theory and optimization in triploids.

    abstract::The theory, construction and optimization of a model of chromosome pairing in triploid hybrids are re-examined and the model reconstructed. A new approach to optimization is described that removes a bias in the estimation of x, the measure of relative affinity, by weighting the observed and calculated meiotic figure f...


    pub_type: 杂志文章


    authors: Chapman CGD,Kimber G

    更新日期:1992-02-01 00:00:00

  • Genealogy of the nuclear beta-fibrinogen locus in a highly structured lizard species: comparison with mtDNA and evidence for intragenic recombination in the hybrid zone.

    abstract::The study of nuclear genealogies in natural populations of nonmodel organisms is expected to provide novel insights into the evolutionary history of populations, especially when developed in the framework of well-established mtDNA phylogeographical scenarios. In the Iberian Peninsula, the endemic Schreiber's green liz...


    pub_type: 杂志文章


    authors: Godinho R,Mendonça B,Crespo EG,Ferrand N

    更新日期:2006-06-01 00:00:00

  • Recessive Z-linked lethals and the retention of haplotype diversity in a captive butterfly population.

    abstract::Sex chromosomes are predicted to harbour elevated levels of sexually antagonistic variation due to asymmetries in the heritability of recessive traits in the homogametic versus heterogametic sex. This evolutionary dynamic may manifest as high recessive load specifically affecting the homogametic sex, and the retention...


    pub_type: 杂志文章


    authors: Saccheri IJ,Whiteford S,Yung CJ,Van't Hof AE

    更新日期:2020-08-01 00:00:00

  • Evidence for intragenic recombination within a novel genetic marker that distinguishes mussels in the Mytilus edulis species complex.

    abstract::We have used the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques to design two genetic markers for blue mussels in the Mytilus edulis species complex. Both of these markers target the gene encoding the mussel polyphenolic adhesive protein. The first marker, Glu-5', is hig...


    pub_type: 杂志文章


    authors: Rawson PD,Joyner KL,Meetze K,Hilbish TJ

    更新日期:1996-12-01 00:00:00

  • The quantitative genetics of indirect genetic effects: a selective review of modelling issues.

    abstract::Indirect genetic effects (IGE) occur when the genotype of an individual affects the phenotypic trait value of another conspecific individual. IGEs can have profound effects on both the magnitude and the direction of response to selection. Models of inheritance and response to selection in traits subject to IGEs have b...


    pub_type: 杂志文章,评审


    authors: Bijma P

    更新日期:2014-01-01 00:00:00

  • Genetic variation and constraints on the evolution of defense against spittlebug (Philaenus spumarius) herbivory in Mimulus guttatus.

    abstract::Plants mediate carbon into most ecosystems and are thus under persistent attack by diverse enemies. The evolution of defense against such assaults will depend on the availability of genetic variation, as well as the costs and constraints on defense. We estimated the magnitude of genetic variation for defense against s...


    pub_type: 杂志文章


    authors: Ivey CT,Carr DE,Eubanks MD

    更新日期:2009-03-01 00:00:00

  • Effects of population disjunction on isozyme variation in the widespread Pilgerodendron uviferum.

    abstract::Geographical range is considered a good predictor of the levels of isozyme variation in plants. Widespread species, often consisting of historically larger and more continuous populations, maintain higher polymorphism and are less affected by drift, which tends to erode genetic variation in more geographically restric...


    pub_type: 杂志文章


    authors: Premoli AC,Souto CP,Allnutt TR,Newton AC

    更新日期:2001-09-01 00:00:00

  • Genetic diversity in peripheral and subcentral populations of corrigiola litoralis L. (Illecebraceae)

    abstract::Genetic diversity and differentiation were studied in Corrigiola litoralis L., an annual plant species growing on seasonally flooded river banks. Plant species that are restricted to river systems may consist of highly isolated populations. For this species, pronounced genetic differentiation among rivers was expected...


    pub_type: 杂志文章


    authors: Durka W

    更新日期:1999-10-01 00:00:00

  • Out of Africa: demographic and colonization history of the Algerian mouse (Mus spretus Lataste).

    abstract::North Africa is now recognized as a major area for the emergence and dispersal of anatomically modern humans from at least 315 kya. The Mediterranean Basin is thus particularly suited to study the role of climate versus human-mediated changes on the evolutionary history of species. The Algerian mouse (Mus spretus Lata...


    pub_type: 杂志文章


    authors: Lalis A,Mona S,Stoetzel E,Bonhomme F,Souttou K,Ouarour A,Aulagnier S,Denys C,Nicolas V

    更新日期:2019-02-01 00:00:00

  • Common garden experiments in the genomic era: new perspectives and opportunities.

    abstract::The study of local adaptation is rendered difficult by many evolutionary confounding phenomena (for example, genetic drift and demographic history). When complex traits are involved in local adaptation, phenomena such as phenotypic plasticity further hamper evolutionary biologists to study the complex relationships be...


    pub_type: 杂志文章,评审


    authors: de Villemereuil P,Gaggiotti OE,Mouterde M,Till-Bottraud I

    更新日期:2016-03-01 00:00:00

  • Collective effects of common SNPs and risk prediction in lung cancer.

    abstract::Lung cancer is the leading cause of cancer deaths in both men and women in the US. While most sporadic lung cancer cases are related to environmental factors such as smoking, genetic susceptibility may also play an important role and a number of lung cancer associated single-nucleotide polymorphisms (SNPs) have been i...


    pub_type: 杂志文章


    authors: Lei X,Yuan D,Zhu Z,Huang S

    更新日期:2018-12-01 00:00:00

  • Does population size affect genetic diversity? A test with sympatric lizard species.

    abstract::Genetic diversity is a fundamental requirement for evolution and adaptation. Nonetheless, the forces that maintain patterns of genetic variation in wild populations are not completely understood. Neutral theory posits that genetic diversity will increase with a larger effective population size and the decreasing effec...


    pub_type: 杂志文章


    authors: Hague MT,Routman EJ

    更新日期:2016-01-01 00:00:00

  • Molecular characterisation of sweet cherry (Prunus avium L.) genotypes using peach [Prunus persica (L.) Batsch] SSR sequences.

    abstract::A total of 76 sweet cherry genotypes were screened with 34 microsatellite primer pairs previously developed in peach. Amplification of SSR loci was obtained for 24 of the microsatellite primer pairs, and 14 of them produced polymorphic amplification patterns. On the basis of polymorphism and quality of amplification, ...


    pub_type: 杂志文章


    authors: Wünsch A,Hormaza JI

    更新日期:2002-07-01 00:00:00

  • Do polymorphic loci require large sample sizes to estimate genetic distances?

    abstract::The coefficient of variation of estimates of three genetic distances (standard genetic distance of Nei, chord distance, FST) was examined with computer simulation to determine if large samples (per population) are necessary to precisely estimate genetic distances at loci with high levels of polymorphism. These simulat...


    pub_type: 杂志文章


    authors: Kalinowski ST

    更新日期:2005-01-01 00:00:00

  • Additional evidence for the genomic imprinting model of sex determination in the haplodiploid wasp Nasonia vitripennis: isolation of biparental diploid males after X-ray mutagenesis.

    abstract::The primary sex-determining signal in the haplodiploid wasp Nasonia vitripennis is not known. In haplodiploid reproduction, unfertilized eggs typically develop into uniparental haploid males and fertilized eggs into biparental diploid females. Although this reproductive strategy is common to all Hymenoptera, sex-deter...


    pub_type: 杂志文章


    authors: Trent C,Crosby C,Eavey J

    更新日期:2006-05-01 00:00:00

  • Genomic prediction applied to multiple traits and environments in second season maize hybrids.

    abstract::Genomic selection has become a reality in plant breeding programs with the reduction in genotyping costs. Especially in maize breeding programs, it emerges as a promising tool for predicting hybrid performance. The dynamics of a commercial breeding program involve the evaluation of several traits simultaneously in a l...


    pub_type: 杂志文章


    authors: de Oliveira AA,Resende MFR Jr,Ferrão LFV,Amadeu RR,Guimarães LJM,Guimarães CT,Pastina MM,Margarido GRA

    更新日期:2020-08-01 00:00:00

  • Ontogenetic changes in genetic variances of age-dependent plasticity along a latitudinal gradient.

    abstract::The expression of phenotypic plasticity may differ among life stages of the same organism. Age-dependent plasticity can be important for adaptation to heterogeneous environments, but this has only recently been recognized. Whether age-dependent plasticity is a common outcome of local adaptation and whether populations...


    pub_type: 杂志文章


    authors: Nilsson-Örtman V,Rogell B,Stoks R,Johansson F

    更新日期:2015-10-01 00:00:00

  • Wolbachia variant that induces two distinct reproductive phenotypes in different hosts.

    abstract::Wolbachia is an intracellular endosymbiont that induces a variety of reproductive alterations in diverse arthropods. The almond moth, Cadra cautella, is double infected with two Wolbachia variants, wCauA and wCauB, and expresses complete cytoplasmic incompatibility (CI). The individual contribution of wCauA and wCauB ...


    pub_type: 杂志文章


    authors: Sasaki T,Massaki N,Kubo T

    更新日期:2005-11-01 00:00:00

  • Low biochemical variability in European fallow deer (Dama dama L.): natural bottlenecks and the effects of domestication.

    abstract::Tissue and blood samples from 180 fallow deer (Dama dama L.) belonging to an Italian free-ranging population were studied for biochemical variability by means of cellulose acetate and polyacrylamide gel electrophoresis. The 51 putative genetic loci successfully resolved showed a very low level of variability (P = 0.02...


    pub_type: 杂志文章


    authors: Randi E,Apollonio M

    更新日期:1988-12-01 00:00:00

  • Annual cycles in the incidence of b chromosomes in the grasshopper Myrmeleotettix maculatus (acrididae: orthoptera).

    abstract::The frequency of B chromosomes has been determined for several stages in the grasshopper life-cycle, over three generations, in three natural populations spanning a steep cline in East Anglia. This has revealed a rise in B frequency in prediapause eggs, a fall during the winter in the embryos and a rise in the early n...


    pub_type: 杂志文章


    authors: Robinson PM,Hewitt GM

    更新日期:1976-06-01 00:00:00

  • On the developmental theory of ageing. II. The effect of developmental temperature on longevity in relation to adult body size in D. melanogaster.

    abstract::Flies from a wild type strain of Drosophila melanogaster, previously kept at 25 degrees C, were reared at either 20, 25 or 29 degrees C. As expected, developmental time and adult body size decreased with increasing temperature. Adult longevity of flies reared at 25 degrees C was slightly greater than that of flies rai...


    pub_type: 杂志文章


    authors: Zwaan BJ,Bijlsma R,Hoekstra RF

    更新日期:1992-02-01 00:00:00

  • Galton's law of ancestral heredity.

    abstract::Galton's ancestral law states that the two parent contribute between them on average one-half of the total heritage of the offspring, the four grandparents one-quarter, and so on. He interpreted this law both as a representation of the separate contributions of each ancestor to the heritage of the offspring and as a m...


    pub_type: 传,历史文章,杂志文章


    authors: Bulmer M

    更新日期:1998-11-01 00:00:00

  • Quantitative genetics of allogamous F2: an origin of randomly fertilized populations.

    abstract::The quantitative genetic properties are derived for the bulk F2 originating from random fertilization (RF) amongst hybrid (F1) individuals. Only its mean appears to have been derived previously, and that definition is confirmed (by another method). New general equations are found also for all genotype frequencies, all...


    pub_type: 杂志文章


    authors: Gordon IL

    更新日期:2000-07-01 00:00:00

  • Genetic dimension of the coevolution of virulence-resistance in Drosophila -- parasitoid wasp relationships.

    abstract::Variations observed in parasite virulence and host resistance may be the outcome of coevolutionary processes. Recent theoretical developments have led to a 'geographic mosaic theory' of coevolution according to which there are some localities where reciprocal selection occurs (hot spots) and others where it is strongl...


    pub_type: 杂志文章


    authors: Dupas S,Carton Y,Poiriè M

    更新日期:2003-01-01 00:00:00

  • Genetic variation in natural populations of maté (Ilex paraguariensis A. st.-hil., aquifoliaceae) using RAPD markers.

    abstract::This study characterized the genetic diversity of four populations of Ilex paraguariensis, a plant species native to South America, using random amplified polymorphic DNA (RAPD) markers. A total of 341 different RAPD bands were generated by the 15 primers analysed. High genetic variability was detected within each pop...


    pub_type: 杂志文章


    authors: Gauer L,Cavalli-Molina S

    更新日期:2000-06-01 00:00:00

  • Within- and among-population impact of genetic erosion on adult fitness-related traits in the European tree frog Hyla arborea.

    abstract::Assessing in wild populations how fitness is impacted by inbreeding and genetic drift is a major goal for conservation biology. An approach to measure the detrimental effects of inbreeding on fitness is to estimate correlations between molecular variation and phenotypic performances within and among populations. Our s...


    pub_type: 杂志文章


    authors: Luquet E,Léna JP,David P,Prunier J,Joly P,Lengagne T,Perrin N,Plénet S

    更新日期:2013-04-01 00:00:00

  • Drosophila melanogaster and D. simulans rescue strains produce fit offspring, despite divergent centromere-specific histone alleles.

    abstract::The interaction between rapidly evolving centromere sequences and conserved kinetochore machinery appears to be mediated by centromere-binding proteins. A recent theory proposes that the independent evolution of centromere-binding proteins in isolated populations may be a universal cause of speciation among eukaryotes...


    pub_type: 杂志文章


    authors: Sainz A,Wilder JA,Wolf M,Hollocher H

    更新日期:2003-07-01 00:00:00

  • Evidence for contrasting modes of selection at interacting globin genes in the European rabbit (Oryctolagus cuniculus).

    abstract::In hybrid zones between genetically differentiated populations, variation in locus-specific rates of introgression may reflect adaptation to different environments or adaptation to different genetic backgrounds. The European rabbit, Oryctolagus cuniculus, is well-suited to studies of such hybrid zone dynamics because ...


    pub_type: 杂志文章


    authors: Campos R,Storz JF,Ferrand N

    更新日期:2008-06-01 00:00:00

  • Microsatellite DNA variation reveals high gene flow and panmictic populations in the Adriatic shared stocks of the European squid and cuttlefish (Cephalopoda).

    abstract::In the semienclosed Adriatic Sea, the shared stocks of the cephalopods Loligo vulgaris and Sepia officinalis represent important marine fisheries resources exploited by all coastal countries. The improving of knowledge on the demographic features of these shared stocks is internationally relevant for adopting responsi...


    pub_type: 杂志文章


    authors: Garoia F,Guarniero I,Ramsak A,Ungaro N,Landi M,Piccinetti C,Mannini P,Tinti F

    更新日期:2004-08-01 00:00:00