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.

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.

scholarly journals Sirenomelia: two case reports

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Asiyeh Shojaee ◽  
Firooze Ronnasian ◽  
Mahdiyeh Behnam ◽  
Mansoor Salehi
Keyword(s):  
Case Reports ◽  
Three Dimensional ◽  
First Trimester ◽  
Mendelian Inheritance ◽  
Lower Limbs ◽  
Congenital Deformity ◽  
White Family ◽  
Her Family ◽  
Caudal Regression ◽  
History Of

AbstractBackgroundSirenomelia, also called mermaid syndrome, is a rare lethal multi-system congenital deformity with an incidence of one in 60,000–70,000 pregnancies. Sirenomelia is mainly characterized by the fusion of lower limbs and is widely associated with severe urogenital and gastrointestinal malformations. The presence of a single umbilical artery derived from the vitelline artery is the main anatomical feature distinguishing sirenomelia from caudal regression syndrome. First-trimester diagnosis of this disorder and induced abortion may be the safest medical option. In this report, two cases of sirenomelia that occurred in an white family will be discussed.Case presentationWe report two white cases of sirenomelia occurring in a 31-year-old multigravid pregnant woman. In the first pregnancy (18 weeks of gestation) abortion was performed, but in the third pregnancy (32 weeks) the stillborn baby was delivered by spontaneous vaginal birth. In the second and fourth pregnancies, however, she gave birth to normal babies. Three-dimensional ultrasound imaging showed fusion of the lower limbs. Neither she nor any member of her family had a history of diabetes. In terms of other risk factors, she had no history of exposure to teratogenic agents during her pregnancy. Also, her marriage was non-consanguineous.ConclusionThis report suggests the existence of a genetic background in this mother with a Mendelian inheritance pattern of 50% second-generation incidence in her offspring.

scholarly journals Sex and death: from cell fate specification to dynamic control of X-chromosome structure and gene expression

2018 ◽  
Vol 29 (22) ◽  
pp. 2616-2621 ◽  
Author(s):  
Barbara J. Meyer
Keyword(s):  
Gene Expression ◽  
Cell Fate ◽  
X Chromosome ◽  
Chromosome Structure ◽  
Dynamic Control ◽  
Three Dimensional ◽  
X Chromosomes ◽  
Meiotic Chromosomes ◽  
The Difference ◽  
Developmental Decision

Determining sex is a binary developmental decision that most metazoans must make. Like many organisms, Caenorhabditis elegans specifies sex (XO male or XX hermaphrodite) by tallying X-chromosome number. We dissected this precise counting mechanism to determine how tiny differences in concentrations of signals are translated into dramatically different developmental fates. Determining sex by counting chromosomes solved one problem but created another—an imbalance in X gene products. We found that nematodes compensate for the difference in X-chromosome dose between sexes by reducing transcription from both hermaphrodite X chromosomes. In a surprising feat of evolution, X-chromosome regulation is functionally related to a structural problem of all mitotic and meiotic chromosomes: achieving ordered compaction of chromosomes before segregation. We showed the dosage compensation complex is a condensin complex that imposes a specific three-­dimensional architecture onto hermaphrodite X chromosomes. It also triggers enrichment of histone modification H4K20me1. We discovered the machinery and mechanism underlying H4K20me1 enrichment and demonstrated its pivotal role in regulating higher-order X-chromosome structure and gene expression.

Loci of intestinal distress in cystic fibrosis knockout mice

2003 ◽  
Vol 12 (2) ◽  
pp. 79-84 ◽  
Author(s):  
Christina K. Haston ◽  
Lap-Chee Tsui
Keyword(s):  
Cystic Fibrosis ◽  
X Chromosome ◽  
Knockout Mice ◽  
Mendelian Inheritance ◽  
Genetic Dissection ◽  
Male Mice ◽  
Female Mice ◽  
Genome Wide ◽  
A Genome ◽  
Strain Dependent

The strain-dependent survival of cystic fibrosis (CF) knockout mice has been used to map a modifier of CF, Cfm1, in mice and, subsequently, in humans. To identify additional modifiers of the CF phenotype, in this study, the survival of F2 CF mice derived from a cross between congenic C57BL/6J CF and BALB/cJ CF heterozygotes was followed up to 12 wk of age. A genome-wide linkage scan completed in F2 CF mice revealed a chromosome 10 locus ( P = 1.2 × 10−4) to predict for intestinal distress in CF male mice. An X chromosome locus for which non-Mendelian inheritance favoring B6 alleles in the surviving CF mice and BALB alleles in mice of a control population, was identified. The survival of female mice, both F2 CF and F2 control, was linked to loci on chromosomes 3 and 5. The identification of additional putative CF modifier loci may permit further genetic dissection of the complex CF phenotype.

scholarly journals The asymmetry of female meiosis reduces the frequency of inheritance of unpaired chromosomes

eLife ◽  
2015 ◽  
Vol 4 ◽  
Author(s):  
Daniel B Cortes ◽  
Karen L McNally ◽  
Paul E Mains ◽  
Francis J McNally
Keyword(s):  
Caenorhabditis Elegans ◽  
X Chromosome ◽  
High Frequency ◽  
Germ Line ◽  
Extra Chromosome ◽  
Polar Body ◽  
Contractile Ring ◽  
Female Meiosis ◽  
Random Segregation ◽  
The Asymmetry

Trisomy, the presence of a third copy of one chromosome, is deleterious and results in inviable or defective progeny if passed through the germ line. Random segregation of an extra chromosome is predicted to result in a high frequency of trisomic offspring from a trisomic parent. Caenorhabditis elegans with trisomy of the X chromosome, however, have far fewer trisomic offspring than expected. We found that the extra X chromosome was preferentially eliminated during anaphase I of female meiosis. We utilized a mutant with a specific defect in pairing of the X chromosome as a model to investigate the apparent bias against univalent inheritance. First, univalents lagged during anaphase I and their movement was biased toward the cortex and future polar body. Second, late-lagging univalents were frequently captured by the ingressing polar body contractile ring. The asymmetry of female meiosis can thus partially correct pre-existing trisomy.

Mapping of a syndrome of X-linked thrombocytopenia with thalassemia to band Xp11-12: further evidence of genetic heterogeneity of X-linked thrombocytopenia

Blood ◽  
2000 ◽  
Vol 95 (7) ◽  
pp. 2262-2268
Author(s):  
Wendy H. Raskind ◽  
Kathy K. Niakan ◽  
John Wolff ◽  
Mark Matsushita ◽  
Ty Vaughan ◽  
...  
Keyword(s):  
X Chromosome ◽  
Mononuclear Cells ◽  
Mendelian Inheritance ◽  
Allelic Variant ◽  
Accession Number ◽  
Peripheral Blood Mononuclear ◽  
Platelet Morphology ◽  
Inactivation Pattern ◽  
Chain Synthesis ◽  
Mutation Analyses

X-linked thrombocytopenia with thalassemia (XLTT; Online Mendelian Inheritance in Man [OMIM] accession number 314050) is a rare disorder characterized by thrombocytopenia, platelet dysfunction, splenomegaly, reticulocytosis, and unbalanced hemoglobin chain synthesis. In a 4-generation family, the gene responsible for XLTT was mapped to the X chromosome, short arm, bands 11-12 (band Xp11-12). The maximum lod score possible in this family, 2.39, was obtained for markers DXS8054 and DXS1003, at a recombination fraction of 0. Recombination events observed for XLTT and markers DXS8080 and DXS8023 or DXS991 define a critical region that is less than or equal to 7.65 KcM and contains the gene responsible for the Wiskott-Aldrich syndrome (WAS; OMIM accession number 301000) and its allelic variant X-linked thrombocytopenia (XLT; OMIM accession number 313900). Manifestations of WAS include thrombocytopenia, eczema, and immunodeficiency. In WAS/XLT the platelets are usually small, and bleeding is proportional to the degree of thrombocytopenia. In contrast, in XLTT the platelet morphology is normal, and the bleeding time is disproportionately prolonged. In this study no alteration in the WAS gene was detected by Northern blot or Western blot analysis, flow cytometry, or complimentary DNA dideoxynucleotide fingerprinting or sequencing. As has been reported for WAS and some cases of XLT, almost total inactivation of the XLTTgene-bearing X chromosome was observed in granulocytes and peripheral blood mononuclear cells from 1 asymptomatic obligate carrier. The XLTT carrier previously found to have an elevated :β hemoglobin chain ratio had a skewed, but not clonal, X-inactivation pattern favoring activity of the abnormal allele. Clinical differences and results of the mutation analyses make it very unlikely that XLTT is another allelic variant of WAS/XLT and strongly suggest that X-linked thrombocytopenia mapping to band Xp11-12 is a genetically heterogeneous disorder.

Modeling and Simulation Analysis of the Twist Drill Conical Grinding Method Based on Pro/E Software

2010 ◽  
Vol 160-162 ◽  
pp. 1680-1684
Author(s):  
Xing Jun Gao ◽  
Qing Liu ◽  
Ping Zou ◽  
Jian Song ◽  
Ping Li
Keyword(s):  
Mathematical Model ◽  
Simulation Analysis ◽  
Three Dimensional ◽  
Fundamental Principle ◽  
Drilling Process ◽  
Twist Drill ◽  
Three Dimensional Modeling ◽  
Grinding Method ◽  
Dimensional Modeling ◽  
The Mathematical Model

The fundamental principle of the twist drill conical grinding method was introduced. The mathematical model of the twist drill was established. Mathematical model to establish drill bit is the geometric design, manufacture, cutting analysis and modeling on the basis of the drilling process. According to the twist drill grinding principle, using Pro/E the three-dimensional modeling of the twist drill was completed, and the feature of the conical grinding method was analyzed.

scholarly journals Structural aspects of the inactive X chromosome

2017 ◽  
Vol 372 (1733) ◽  
pp. 20160357 ◽  
Author(s):  
Giancarlo Bonora ◽  
Christine M. Disteche
Keyword(s):  
X Chromosome ◽  
High Throughput Sequencing ◽  
Nuclear Periphery ◽  
Three Dimensional ◽  
Super Resolution ◽  
Structural Difference ◽  
X Inactivation ◽  
Striking Difference ◽  
Inactive X Chromosome ◽  
Mary Lyon

A striking difference between male and female nuclei was recognized early on by the presence of a condensed chromatin body only in female cells. Mary Lyon proposed that X inactivation or silencing of one X chromosome at random in females caused this structural difference. Subsequent studies have shown that the inactive X chromosome (Xi) does indeed have a very distinctive structure compared to its active counterpart and all autosomes in female mammals. In this review, we will recap the discovery of this fascinating biological phenomenon and seminal studies in the field. We will summarize imaging studies using traditional microscopy and super-resolution technology, which revealed uneven compaction of the Xi. We will then discuss recent findings based on high-throughput sequencing techniques, which uncovered the distinct three-dimensional bipartite configuration of the Xi and the role of specific long non-coding RNAs in eliciting and maintaining this structure. The relative position of specific genomic elements, including genes that escape X inactivation, repeat elements and chromatin features, will be reviewed. Finally, we will discuss the position of the Xi, either near the nuclear periphery or the nucleolus, and the elements implicated in this positioning. This article is part of the themed issue ‘X-chromosome inactivation: a tribute to Mary Lyon’.

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