The testis-determining autosomal trait, Tda-1, of C57BL/6J is determined by more than a single autosomal gene when compared with DBA/2J mice

Genome ◽  
1994 ◽  
Vol 37 (2) ◽  
pp. 296-304 ◽  
Author(s):  
Fred G. Biddle ◽  
James R. Eisner ◽  
Brenda A. Eales
Keyword(s):  
Y Chromosome ◽  
Congenic Strain ◽  
Autosomal Recessive ◽  
Recombinant Inbred Strain ◽  
Single Gene ◽  
Autosomal Gene ◽  
Mus Musculus Domesticus ◽  
Homozygous State ◽  
Recessive Factor ◽  
Testis Development

The putative Tda-1 or testis-determining autosomal trait of the C57BL/6J mouse strain came to attention when the Y chromosome from the poschiavinus variety of Mus musculus domesticus was introduced into C57BL/6J by backcross matings. The F1 generation expressed normal testis development in XY individuals with the poschiavinus Y chromosome. In the backcross and subsequent crosses to C57BL/6J females, XY individuals expressed ovaries bilaterally or various combinations of an ovotestis with a contralateral ovary or testis or bilateral ovotestes and a few had testes bilaterally. Some of the previous breeding data appeared to support the hypothesis that C57BL/6J had an autosomal recessive factor that differed from the poschiavinus strain and, in the homozygous state, caused incomplete testis development with the poschiavinus Y chromosome. Subsequent attempts to map the Tda-1 factor, using a recombinant inbred strain approach, failed to localize Tda-1 and this suggests it might map to different chromosomes depending on which strain pairs are used. We constructed two strains of C57BL/6J and DBA/2J that are congenic for the poschiavinus Y chromsome. In the C57BL/6J.Y-POS congenic strain, liability to express incomplete testis development is normally distributed and thresholds in development specify the probability (or areas under the normal distribution) of different classes of ovary, ovotestis, and testis combinations. Testis development is normal in the DBA/2J.Y-POS congenic strain. With the two congenic strains and their normal parental strains we were able to conduct standard crosses to examine the reciprocal F1 and four types of backcross generations to the C57BL/6J strain in which all XY individuals have the poschiavinus Y chromosome. The Tda-1 trait of C57BL/6J is recessive to DBA/2J, but the segregating backcross generations reject the single gene model.Key words: mouse, Y chromosome, gonadal hermaphrodites, primary sex determination.

Segregation analysis of the testis-determining autosomal trait, Tda, that differs between the C57BL/6J and DBA/2J mouse strains suggests a multigenic threshold model

Genome ◽  
1996 ◽  
Vol 39 (2) ◽  
pp. 322-335 ◽  
Author(s):  
James R. Eisner ◽  
Brenda A. Eales ◽  
Fred G. Biddle
Keyword(s):  
Y Chromosome ◽  
Segregation Analysis ◽  
Threshold Model ◽  
Single Gene ◽  
Mouse Strains ◽  
Gene Model ◽  
Backcross Generation ◽  
Testis Development ◽  
Consomic Strain ◽  
Strain Background

The testis-determining autosomal trait (Tda) of the mouse was uncovered when the Y chromosome of the poschiavinus variety of Mus musculus domesticus was introduced into the C57BL/6J laboratory strain background. Testis development is normal in the F1 generation but, in the backcross and subsequent crosses to C57BL/6J females, XY individuals with the poschiavinus Y chromosome expressed bilateral ovaries or various combinations of an ovotestis with a contralateral ovary or testis or bilateral ovotestes and few had testes bilaterally. In other strain backgrounds, such as DBA/2J, XY individuals with the poschiavinus Y chromosome always expressed normal testes bilaterally. The first breeding analysis of this difference in the interaction of strain background with the poschiavinus Y chromosome suggested that the Tda trait was due to a single gene, but attempts to map it failed. We constructed two strains of C57BL/6J and DBA/2J that are consomic for the poschiavinus Y chromosome in order to conduct a segregation analysis of the Tda trait. In the C57BL/6J.Y-POS consomic strain, liability to express incomplete testis development is normally distributed and thresholds in development specify the probability of different classes of ovary, ovotestis, and testis combinations. Testis development is complete in the DBA/2J.Y-POS consomic strain. We demonstrated previously that the Tda trait of C57BL/6J is recessive to that of DBA/2J and the segregating first backcross generation of embryos rejected the single-gene model. We have extended our analysis to a F2 generation of embryos that also rejects a single-gene model. We also report a test mating analysis of the first backcross generation. It was initiated to provide an independent assessment of the single-gene model, but the analysis of the distribution of test mating results suggests that the difference in the Tda trait between C57BL/6J and DBA/2J may be due to a small number of loci, possibly four or five, and that the phenotypic effect between loci may be additive. Key words : mouse, Y chromosome, gonadal hermaphrodites, primary sex determination, autosomal testis-determining genes, multigenic threshold model.

Directional dominance and a developmental model for the expression of the Tda testis-determining autosomal trait of the mouse

Genome ◽  
1996 ◽  
Vol 39 (3) ◽  
pp. 520-527 ◽  
Author(s):  
Brenda A. Eales ◽  
Mirna Nahas ◽  
Fred G. Biddle
Keyword(s):  
Y Chromosome ◽  
Laboratory Mouse ◽  
Strain Differences ◽  
Gonadal Development ◽  
Developmental Model ◽  
Mus Musculus Domesticus ◽  
Native Strain ◽  
Testis Development ◽  
Threshold Trait ◽  
Normally Distributed

The POSCH-2 Y chromosome from the poschiavinus variety of Mus musculus domesticus causes incomplete testis development in the recessive autosomal background of the C57BL/6J laboratory mouse strain. Testis development is normal with the POSCH-2 Y in its native strain background as well as in some strains of the laboratory mouse such as DBA/2J. The phenotype or expression of XY gonadal hermaphroditism in a C57BL/6J strain, which was constructed to be consomic for the POSCH-2 Y, is a threshold trait in which liability is normally distributed and thresholds in the development of the testis define the probability of observing XY embryos with different combinations of ovaries, ovotestes, and testes. The difference in this testis-determining autosomal or Tda trait between the C57BL/6J and DBA/2J strain pair has been demonstrated to be multigenic. We conducted a survey among different strains of the laboratory mouse by test mating females with C57BL/6J.Y-POS males that are consomic for the POSCH-2 Y We identified five groups of strains with significantly different response of XY gonadal hermaphroditism in their XY-POS F1 test embryos. In test embryos, four groups of strains produced gonadal hermaphroditism with different distributions of the types of gonad that appear to have the same variance or shape of a normally distributed liability, but the means of the distributions are at different locations on a scale of gonadal development. The fifth group of strains produced only testes in the test embryos. Several additional matings produced results suggesting that a model of dominance, in the direction of more complete testis development, could interpret the strain differences. The differences in response to the POSCH-2 Y chromosome among the five groups of strains may represent the phenotypes of the genetic recombinants in the Tda trait that were suggested previously by a segregation analysis between C57BL/6J and DBA/2J. The strains may also provide the tools to further dissect the allelic differences and locus determinants of the Tda trait. Key words : mouse, Y chromosome, autosomal testis-determining genes, developmental model of XY gonadal hermaphroditism, primary sex determination.

Two Typical Hereditary Charts of Congenital Factor VII Deficiency

1961 ◽  
Vol 05 (01) ◽  
pp. 087-092 ◽  
Author(s):  
F. J Cleton ◽  
E. A Loeliger
Keyword(s):  
Factor Vii ◽  
Autosomal Gene ◽  
Homozygous State ◽  
Recessive Character ◽  
Factor Vii Deficiency ◽  
Complete Penetrance ◽  
Coagulation Defect ◽  
Haemorrhagic Diathesis ◽  
Intermediate Expression ◽  
Congenital Factor

SummaryThe inheritance of congenital factor VII deficiency was investigated in 2 unrelated families. Out of 68 individuals, 4 (3 proven and 1 highly probable) were found to have severe factor VII deficiency (<C 0.1% factor VII), and 29 appeared to be heterozygotes (30—60% factor VII). The coagulation defect is due to an autosomal gene of intermediate expression and complete penetrance. The recessive character of the haemorrhagic diathesis due to the homozygous state for the abnormal gene is clearly demonstrated.

scholarly journals Drosophila melanogaster male germ line-specific transcripts with autosomal and Y-linked genes.

Genetics ◽  
1993 ◽  
Vol 134 (1) ◽  
pp. 293-308 ◽  
Author(s):  
S R Russell ◽  
K Kaiser
Keyword(s):  
Drosophila Melanogaster ◽  
Y Chromosome ◽  
Germ Line ◽  
Stop Codon ◽  
Chromatin Condensation ◽  
Sperm Chromatin ◽  
Autosomal Gene ◽  
Cdna Clones ◽  
Autosomal Locus ◽  
Functional Protein

Abstract We have identified of set of related transcripts expressed in the germ line of male Drosophila melanogaster. Surprisingly, while one of the corresponding genes is autosomal the remainder are located on the Y chromosome. The autosomal locus, at 77F on chromosome arm 3L, corresponds to the previously described transcription unit 18c, located in the first intron of the gene for an RI subunit of cAMP-dependent protein kinase. The Y chromosome copies have been mapped to region h18-h19 on the cytogenetic map of the Y outside of any of the regions required for male fertility. In contrast to D. melanogaster, where Y-linked copies were found in nine different wild-type strains, no Y-linked copies were found in sibling species. Several apparently Y-derived cDNA clones and one Y-linked genomic clone have been sequenced. The Y-derived genomic DNA shares the same intron/exon structure as the autosomal copy as well as related flanking sequences suggesting that it transposed to the Y from the autosomal locus. However, this particular Y-linked copy cannot encode a functional polypeptide due to a stop codon at amino acid position 72. Divergence among five different cDNA clones ranges from 1.5 to 6% and includes a large number of third position substitutions. We have not yet obtained a full-length cDNA from a Y-linked gene and therefore cannot conclude that the D. melanogaster Y chromosome contains functional protein-coding genes. The autosomal gene encodes a predicted polypeptide with 45% similarity to histones of the H5 class and more limited similarity to cysteine-rich protamines. This protein may be a distant relative of the histone H1 family perhaps involved in sperm chromatin condensation.

Article on Tay-Sachs Disease

2021 ◽  
pp. 475-478
Author(s):  
Bhawana. B. Bhende
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Single Gene ◽  
Genetic Defect ◽  
Premature Death ◽  
Nerve Cells ◽  
Tay Sachs Disease ◽  
Hexosaminidase A ◽  
Physical Abilities ◽  
The Brain

Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord..also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease it presents with a relentless deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four.It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent. The disease occurs when harmful quantities of gangliosides accumulate in the nerve cells of the brain, eventually leading to the premature death of those cells. There is currently no cure or treatment. Tay- Sachs disease is a rare disease. Other autosomal disorders such as cystic fibrosis and sickle cell anemia are far more common. TSD is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child.

scholarly journals Monogenic Causes of Strokes

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1855
Author(s):  
Justyna Chojdak-Łukasiewicz ◽  
Edyta Dziadkowiak ◽  
Sławomir Budrewicz
Keyword(s):  
Autosomal Recessive ◽  
Genetic Factors ◽  
Autosomal Dominant ◽  
Small Vessel Disease ◽  
Clinical Phenotype ◽  
Single Gene ◽  
Monogenic Disorders ◽  
Single Gene Disorders ◽  
Appropriate Therapy

Strokes are the main cause of death and long-term disability worldwide. A stroke is a heterogeneous multi-factorial condition, caused by a combination of environmental and genetic factors. Monogenic disorders account for about 1% to 5% of all stroke cases. The most common single-gene diseases connected with strokes are cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Fabry disease, mitochondrial myopathy, encephalopathy, lactacidosis, and stroke (MELAS) and a lot of single-gene diseases associated particularly with cerebral small-vessel disease, such as COL4A1 syndrome, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), and Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). In this article the clinical phenotype for the most important single-gene disorders associated with strokes are presented. The monogenic causes of a stroke are rare, but early diagnosis is important in order to provide appropriate therapy when available.

scholarly journals Bilateral Renal Hypoplasia of the Pig

1965 ◽  
Vol 2 (1) ◽  
pp. 37-48 ◽  
Author(s):  
D. O. Cordes ◽  
D. C. Dodd
Keyword(s):  
Autosomal Recessive ◽  
Previous Description ◽  
Large White ◽  
Renal Hypoplasia ◽  
Recessive Factor ◽  
Basic Defect ◽  
The Poor ◽  
Dominant Feature ◽  
Collecting Tubule

Bilateral renal hypoplasia of the pig is described and is compared with a previous description. The defect was observed in 19 piglets out of a total of 73 born in eight litters, sired by one Large White boar. Twelve affected piglets died at or soon after birth and 7 died between the ages of 11 and 69 days. Inheritance by a simple autosomal recessive factor is suggested by the evidence. Grossly the condition was characterized by varying degrees of hypoplasia and persistence of foetal lobulation. Microscopically, the dominant feature was the poor development of the collecting tubule system. It is concluded that the basic defect is a failure of development of mesonephric mesenchyme.

Abstract 595: Genomic, Transcriptomic and MiRNomic Analysis of Triglyceride and Cholesterol Distribution into Lipoprotein Fractions in the Rat

2014 ◽  
Vol 34 (suppl_1) ◽  
Author(s):  
Miloslava Hodúlová
Keyword(s):  
Genome Wide Association Study ◽  
Recombinant Inbred Strain ◽  
Cholesterol Biosynthesis ◽  
Single Gene ◽  
Male Rats ◽  
Brown Norway ◽  
Ldl Particles ◽  
Genome Wide ◽  
Definition Of ◽  
Hepatic Transcriptome

Background: Dyslipidemia is central to the definition of metabolic syndrome (MS), one of most prevalent human diseases worldwide. We preformed genome-wide association study (GWAS) of triacylglycerols (TG) and cholesterol (C) distribution into lipoprotein fractions in the recombinant inbred strain panel PXO (segregating alleles of two MS models, SHR and PD strains, together with those of normolipidemic Brown Norway strain origin), followed by transcriptomic and miRNomic (microRNA profiling) analyses. Methods: We established morphometric and metabolic profile in adult male rats of 14 PXO strains and two progenitor strains (n=183) including glucose tolerance and TG and C concentrations in 20 lipoprotein fractions. GWAS utilizing >20,000 SNPs was performed using MapManager, the significance validated by 2000 permutations per trait. The hepatic transcriptome and miRNome profiles of the most contrasting strains were generated using Affymetrix GeneAtlas system followed by network analysis (Ingenuity Pathway Analysis). Results: We have identified 14 haplotype blocks showing suggestive or significant linkage to studied traits. Except for LDL-TG loci on chromosomes 3 and 12, PXO strains carrying the SHR allele displayed significantly higher values of the lipid linked traits, e.g. LDL-C (21.2±0.4 vs. 12.5±0.4 mg/dl in PXO strains with SHR allele vs. BXH2 allele). C concentrations in large, medium and very small LDL particles were significantly associated to a single gene ( Lrp1b ). Subsequent transcriptomic comparison of phenotypically most contrasting identified series of dysregulated metabolic and signaling pathways including cholesterol biosynthesis and the key upstream regulators such as HNF1 , HNF4 and PPARA . Conclusion: We identified several novel variants associated to TG and C concentrations in lipoprotein fractions together with their transcriptomic and biological network correlates.

scholarly journals Single-Gene Congenic Strain Reveals the Effect of Zbtb16 on Dexamethasone-Induced Insulin Resistance

2018 ◽  
Vol 9 ◽  
Author(s):  
Michaela Krupková ◽  
František Liška ◽  
Ludmila Kazdová ◽  
Lucie Šedová ◽  
Adéla Kábelová ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Congenic Strain ◽  
Single Gene

Two types of mouse (Mus musculus domesticus) Y chromosomes in Quebec

Genome ◽  
1992 ◽  
Vol 35 (3) ◽  
pp. 534-537
Author(s):  
Yutaka Nishioka
Keyword(s):  
Y Chromosome ◽  
House Mouse ◽  
Mus Musculus ◽  
Repetitive Sequence ◽  
The Other ◽  
Chromosome Polymorphism ◽  
Mus Musculus Domesticus ◽  
Y Chromosomes

A Y chromosomal repetitive sequence identified two types of Y chromosomes in mice (Mus musculus domesticus) caught near Ste. Anne de Bellevue, Quebec. One type is apparently identical to the Y chromosome found in Maryland, Delaware, and California, whereas the other type is similar, but not identical, to the Y chromosome present in M.m. poschiavinus, an Alpine race of M.m. domesticus. These findings suggest that the domesticus Y chromosome is highly polymorphic and thus useful for elucidating the relationships among American and European house mouse populations.Key words: mouse Y chromosome, polymorphism, Mus musculus domesticus, repetitive sequence, Quebec.

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