scholarly journals Epistatic Control of Non-Mendelian Inheritance in Mouse Interspecific Crosses

Genetics ◽  
1996 ◽  
Vol 143 (4) ◽  
pp. 1739-1752 ◽  
Author(s):  
Xavier Montagutelli ◽  
Rowena Turner ◽  
Joseph H Nadeau
Keyword(s):  
X Chromosome ◽  
Genetic Basis ◽  
Mendelian Inheritance ◽  
The Other ◽  
Interspecific Crosses ◽  
Chromosome 2 ◽  
Mus Spretus ◽  
F1 Hybrid ◽  
Strong Deviation ◽  
Marker Loci

Abstract Strong deviation of allele frequencies from Mendelian inheritance favoring Mus spretus-derived alleles has been described previously for X-linked loci in four mouse interspecific crosses. We reanalyzed data for three of these crosses focusing on the location of the gene(s) controlling deviation on the X chromosome and the genetic basis for incomplete deviation. At least two loci control deviation on the X chromosome, one near Xist (the candidate gene controlling X inactivation) and the other more centromerically located. In all three crosses, strong epistasis was found between loci near Xist and marker loci on the central portion of chromosome 2. The mechanism for this deviation from Mendelian expectations is not yet known but it is probably based on lethality of embryos carrying particular combinations of alleles rather than true segregation distortion during oogenesis in F1 hybrid females.

Mapping the mouse X chromosome: possible symmetry in the location of a family of sequences on the mouse X and Y chromosomes

Development ◽  
1987 ◽  
Vol 101 (Supplement) ◽  
pp. 107-116
Author(s):  
Philip Avner ◽  
Colin Bishop ◽  
Laurence Amar ◽  
Jacques Cambrou ◽  
Didier Hatat ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Y Chromosome ◽  
X Chromosome ◽  
Somatic Cell Hybrid ◽  
The Other ◽  
Interspecific Crosses ◽  
Somatic Cell Hybrid Panel ◽  
Mus Spretus ◽  
Y Chromosomes

Major advances in our knowledge of the genetic organization of the mouse X chromosome have been obtained by the use of interspecific crosses involving Mus spretus-derived strains. This system has been used to study sequences detected by three probes 80Y/B, 302Y/B and 371Y/B isolated from a mouse Y-chromosome library which have been shown to recognize both male–female common and male–female differential sequences. These patterns are due to the presence of a family of cross-reacting sequences on the mouse X and Y chromosomes. Detailed genetic analysis of the localization of the X-chromosomespecific sequences using both a somatic cell hybrid panel and an interspecific mouse cross has revealed the presence of at least three discrete clusters of loci (X–Y)A, (X–Y)B and (X–Y)C. Two of these clusters, (X–Y)B and (X–Y)C, lie distally on the mouse X chromosome, the other cluster (X–Y)A being situated close to the centromere. In situ hybridization shows a striking symmetry in the localization of the major sequences on both the X and Y chromosomes detected by these probes, hybridization being preferentially localized to a subcentromeric and subtelomeric region on each chromosome. This striking localization symmetry between the X and Y chromosome sequences is discussed in terms of the extensive pairing of the X–Y chromosomes noted during meiosis.

scholarly journals The genetic basis of a species-specific character in the Drosophila virilis species group.

Genetics ◽  
1991 ◽  
Vol 128 (2) ◽  
pp. 331-337 ◽  
Author(s):  
G S Spicer
Keyword(s):  
Genetic Basis ◽  
Sex Chromosome ◽  
Species Group ◽  
Drosophila Virilis ◽  
Interspecific Crosses ◽  
Chromosome 2 ◽  
Specific Character ◽  
Number Of Factors ◽  
Species Specific ◽  
Dorsal Stripe

Abstract The genetic basis of the species-specific dorsal abdominal stripe of Drosophila novamexicana was examined. The dorsal stripe is present in D. novamexicana and absent in all other members of the Drosophila virilis species group. Interspecific crosses between D. novamexicana and genetically marked D. virilis revealed that all four of the autosomes (except the tiny dot chromosome, which was not marked) and the sex chromosomes (the X and Y chromosome effects could not be disentangled) showed a significant effect on the width of the dorsal stripe. All the autosomes act approximately additively; only minor interactions were detected among them. No significant maternal effects were found. This means that a minimum of five loci are involved in the character difference between the two species, and this is the maximum number that this technique could discern. These results suggest that, based on the number of factors involved in the character difference, the inheritance of this character should be considered polygenic, but because chromosome 2 (the largest chromosome in the species) contributed over half of the variance toward the character difference, it is best to consider the inheritance oligogenic based on effect. The implications of these findings are discussed in light of the importance of macromutation in speciation and the sex chromosome theory of speciation.

scholarly journals Genetics of a difference in cuticular hydrocarbons between Drosophila pseudoobscura and D. persimilis

1996 ◽  
Vol 68 (2) ◽  
pp. 117-123 ◽  
Author(s):  
Mohamed A. F. Noor ◽  
Jerry A. Coyne
Keyword(s):  
Cuticular Hydrocarbons ◽  
X Chromosome ◽  
Genetic Basis ◽  
Species Difference ◽  
Sexual Isolation ◽  
The Other ◽  
Drosophila Pseudoobscura ◽  
The Difference ◽  
Dominant Genes

SummaryWe identify a fixed species difference in the relative concentrations of the cuticular hydrocarbons 2-methyl hexacosane and 5,9-pentacosadiene in Drosophilapseudoobscura and D. persimilis, and determine its genetic basis. In backcross males, this difference is due to genes on both the X and second chromosomes, while the other two major chromosomes have no effect. In backcross females, only the second chromosome has a significant effect on hydrocarbon phenotype, but dominant genes on the X chromosome could also be involved. These results differ in two respects from previous studies of Drosophila cuticular hydrocarbons: strong epistasis is observed between the chromosomes that producethe hydrocarbon difference in males, and the difference is apparently unrelated to the strong sexual isolation observed between these species.

scholarly journals DOSAGE COMPENSATION OF GENES ON THE LEFT AND RIGHT ARMS OF THE X CHROMOSOME OF DROSOPHILA PSEUDOOBSCURA AND DROSOPHILA WILLISTONI

Genetics ◽  
1974 ◽  
Vol 78 (4) ◽  
pp. 1119-1126
Author(s):  
Irene Abraham ◽  
John C Lucchesi
Keyword(s):  
X Chromosome ◽  
Dosage Compensation ◽  
The Other ◽  
Drosophila Pseudoobscura ◽  
Chromosome 3 ◽  
Chromosome 2 ◽  
Phosphogluconate Dehydrogenase ◽  
Glycerophosphate Dehydrogenase ◽  
Left And Right ◽  
Glucose 6 Phosphate Dehydrogenase

ABSTRACT We have investigated the occurrence of dosage compensation in D. willistoni and D. pseudoobscura, two species whose X chromosome is metacentric with one arm homologous to the X and the other homologous to the left arm of chromosome 3 of D. melanogaster. Crude extracts were assayed for isocitrate dehydrogenase (XR), glucose-6-phosphate dehydrogenase (XL?), 6-phosphogluconate dehydrogenase (XL?), and α-glycerophosphate dehydrogenase (chromosome 2) in D. willistoni, and for esterase-5 (XR), glucose-6-phosphate dehydrogenase (XL?), 6-phosphogluconate dehydrogenase (XL?) and amylase (chromosome 3) in D. pseudoobscura. Our results indicate that a mechanism for dosage compensation is operative in both arms of the X chromosome of these two species.

scholarly journals A COMPARISON OF HEAT AND INTERCHROMOSOMAL EFFECTS ON RECOMBINATION AND INTERFERENCE IN DROSOPHILA MELANOGASTER

Genetics ◽  
1978 ◽  
Vol 89 (1) ◽  
pp. 65-77
Author(s):  
R F Grell
Keyword(s):  
Drosophila Melanogaster ◽  
X Chromosome ◽  
Thermal Dissociation ◽  
Temporal Sequence ◽  
The Other ◽  
Centromeric Heterochromatin ◽  
Drosophila Genome ◽  
Chromosome 2 ◽  
Independent Control ◽  
Order Of Magnitude

ABSTRACT Heat and interchromosomal effects on recombination have been compared for 23 regions comprising the predominantly euchromatic portions of the five arms of the Drosophila genome. Patterns of response are strikingly similar, with both modifiers causing proximal and distal increases and minimal effects in the middle of the arms. Changes in interference for the same regions in the presence of the two modifiers reveal little similarity, except for the X chromosome. The question of independent control of interference and recombination, as well as alternatives for their temporal sequence, is discussed. Recombination response to the two modifiers in the centric heterochromatin of chromosoaime 2 is markedly different from that found in euchromatin. The interchromosomal effect is absent here, whereas heat induces an increase roughly an order of magnitude greater than that found in euchromatin and totally unlike the lack of response in the proximal heterochromatin of the X chromosome. It is proposed that the sequestering of DNA satellite I (thermal dissociation 9-20° lower than that of the other major satellites) in the centromeric heterochromatin of chromosome 2 (but not in X or 3) may account for the increase.

INTERSPECIFIC CROSSES INVOLVING ALFALFA. V. MEDICAGO SAXATILIS × M. SATIVA WITH REFERENCE TO M. CANCELLATA AND M. RHODOPAEA

1970 ◽  
Vol 12 (1) ◽  
pp. 80-86 ◽  
Author(s):  
K. Lesins
Keyword(s):  
X Chromosome ◽  
Homologous Chromosome ◽  
The Other ◽  
Interspecific Crosses ◽  
Genomic Constitution ◽  
Other Hand ◽  
Chromosome Separation ◽  
Species Hybrids

M. saxatilis M.B. (2n = 48) could be crossed with tetraploid (2n = 32) as well as with hexaploid (2n = 48) M. sativa L. Pentaploid (2n = 40) hybrids tended to give progeny with fewer than 40 chromosomes; progenies from the hexaploid F1 tended to stabilize at hexaploid level with some fluctuations around it. At meiotic AI the hexaploid F1 showed two to five laggards in 21% of cells observed, and at AII there were 45% cells with irregular chromosome separation. M. saxatilis could be easily crossed with M. cancellata M.B. Tri-species hybrids involving M. saxatilis and M. sativa on one hand and M. cancellata or M. rhodopaea Velen. on the other hand were obtained. It is assumed that M. saxatilis has the genomic constitution S1S1 XXXX where S1 denotes homologous chromosome sets closely related to those of M. sativa s.l. The X chromosome sets probably have been derived from M. rhodopaea.

scholarly journals Localization of the properdin factor complement locus Pfc to band A3 on the mouse X chromosome

1990 ◽  
Vol 56 (2-3) ◽  
pp. 153-155 ◽  
Author(s):  
E. P. Evans ◽  
M. D. Burtenshaw ◽  
S. H. Laval ◽  
D. Goundis ◽  
K. B. M. Reid ◽  
...  
Keyword(s):  
X Chromosome ◽  
Mus Musculus ◽  
Robertsonian Translocation ◽  
Chromosomal Segment ◽  
Interspecific Crosses ◽  
Mus Spretus ◽  
X Linkage ◽  
Plasma Glycoprotein

SummaryThe locus for properdin (properdin factor complement, Pfc), a plasma glycoprotein, has been mapped to band A3 of the mouse X chromosome by in situ hybridization to metaphase spreads containing an X;2 Robertsonian translocation. The X-linkage of the locus has also been confirmed by analysis of Mus musculus x Mus spretus interspecific crosses. The XA3 localization for Pfc places it in the chromosomal segment conserved between man and mouse which is known to contain at least six other homologous loci (Cybb, Otc, Syn-1 Maoa, Araf, Timp).

Genetics in Ophthalmology

2020 ◽  
pp. 44-45
Author(s):  
А.Ю. Рудник ◽  
М.А. Федяков ◽  
О.С. Глотов
Keyword(s):  
Genetic Basis ◽  
Genetic Diseases ◽  
Mendelian Inheritance ◽  
Diagnostic Screening ◽  
Online Mendelian Inheritance ◽  
Clinical Diagnostic ◽  
Omim Database

На сегодняшний день в базе данных Online Mendelian Inheritance in Man (OMIM) описано более 6613 заболеваний и фенотипов, 4241 имеют доказанную генетическую основу, не менее 45% вкючают офтальмологические проявления. В статье приведен ряд клинический примеров пациентов с офтальмологическими симптомами различных генетических заболеваний (алкаптонурия, болезнь Штаргардта, синдром микроцефалии с или без хориоретинопатии; астроцитарная гамартома) с целью демонстрации эффективного клинико-диагностического скрининга генетической патологии у пациентов. So far, the Online Mendelian Inheritance in Man (OMIM) database describes more than 6613 diseases and phenotypes, 4241 have a proven genetic basis, 45% of which are combined with ophthalmological manifestations. The article provides a number of clinical examples of patients with ophthalmological manifestations of various genetic diseases (alcaptonuria, Stadgart ‘s disease, microcephaly syndrome with or without choriretinopathy; Astrocytic gamartoma) to demonstrate effective clinical-diagnostic screening of genetic pathology in patients.

Nonrandom Segregation of the Mouse Univalent X Chromosome: Evidence of Spindle-Mediated Meiotic Drive

Genetics ◽  
2000 ◽  
Vol 156 (2) ◽  
pp. 775-783 ◽  
Author(s):  
Renée LeMaire-Adkins ◽  
Patricia A Hunt
Keyword(s):  
X Chromosome ◽  
Chromosome Abnormality ◽  
Three Dimensional ◽  
Fundamental Principle ◽  
Mendelian Inheritance ◽  
Segregation Behavior ◽  
Chromosome Transmission ◽  
Distortion Effect ◽  
Random Segregation ◽  
Transmission Distortion

Abstract A fundamental principle of Mendelian inheritance is random segregation of alleles to progeny; however, examples of distorted transmission either of specific alleles or of whole chromosomes have been described in a variety of species. In humans and mice, a distortion in chromosome transmission is often associated with a chromosome abnormality. One such example is the fertile XO female mouse. A transmission distortion effect that results in an excess of XX over XO daughters among the progeny of XO females has been recognized for nearly four decades. Utilizing contemporary methodology that combines immunofluorescence, FISH, and three-dimensional confocal microscopy, we have readdressed the meiotic segregation behavior of the single X chromosome in oocytes from XO females produced on two different inbred backgrounds. Our studies demonstrate that segregation of the univalent X chromosome at the first meiotic division is nonrandom, with preferential retention of the X chromosome in the oocyte in ∼60% of cells. We propose that this deviation from Mendelian expectations is facilitated by a spindle-mediated mechanism. This mechanism, which appears to be a general feature of the female meiotic process, has implications for the frequency of nondisjunction in our species.

Chromosome polymorphism in natural populations of Anopheles quadrimaculatus Say species A and B

Genome ◽  
1988 ◽  
Vol 30 (2) ◽  
pp. 138-146 ◽  
Author(s):  
P. E. Kaiser ◽  
J. A. Seawright ◽  
B. K. Birky
Keyword(s):  
X Chromosome ◽  
Southeastern United States ◽  
Polytene Chromosomes ◽  
Natural Populations ◽  
Chromosome 3 ◽  
Chromosome Polymorphism ◽  
Chromosome 2 ◽  
Anopheles Quadrimaculatus ◽  
The Right ◽  
Maculipennis Complex

Ovarian polytene chromosomes from eight populations of Anopheles quadrimaculatus in the southeastern United States were observed for chromosomal polymorphisms. Two sibling species, species A and B, each with intraspecific inversions, were distinguished. Species A correlates with the previously published standard maps for salivary gland and ovarian nurse-cell polytene chromosomes. Species A was found at all eight collection sites, and five of these populations also contained species B. Three inversions on the right arm of chromosome 3 were observed in species A. Species B contained a fixed inversion on the X chromosome, one fixed and one floating inversion on the left arm of chromosome 2, and one fixed and one floating inversion on the right arm of chromosome 3. The fixed inversion on the X chromosome makes this the best diagnostic chromosome for distinguishing species A and B. An unusual dimorphism in the left arm of chromosome 3, found in both species A and B, contained two inversions. The heterokaryotypes, as well as two distinct homokaryotypes, were seen in all of the field populations. Intraspecific clinal variations in the frequencies of the species A inversions were noted. The Florida populations were practically devoid of inversions, the Georgia and Alabama populations contained some inversions, and the Arkansas population was mostly homozygous for two of the inversions. The phylogenetic relationships of species A and B to the Maculipennis complex (Nearctic) are discussed.Key words: Anopheles, inversion, populations, chromosome polymorphism, phylogenetics.

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