Locus typically sex chromosomes. Medical search. Frequent questions

Chromosomal breakage syndromes are a group of genetic disorders that are typically transmitted in an autosomal recessive mode of inheritance. (medscape.com)
Table 1 provides a summary outline of the gene symbols, chromosomal locations, radiation sensitivity characteristics, immunodeficiencies, chromosome breakage characteristics, and major cancer risk for each of these disorders. (medscape.com)
Additionally, they support the possibility that sex biases result from sex chromosomal effects, although supporting evidence is currently limited [ 10 ]. (nature.com)
This detailed map demonstrates the power of high-resolution genetic mapping in the mouse as a means of determining locus order in a small chromosomal region and of providing an accurate framework for the construction of physical maps. (mpi.nl)
OCRL is caused by a mutation of the OCRL1 gene mapped to the chromosomal locus of Xq26.1. (medscape.com)
Containing an unprecedented number of Y-chromosomal and mtDNA SNPs and over 130,000 SNPs from the autosomes and X-chromosome, the chip was carefully vetted to avoid inclusion of medically relevant markers. (blogspot.com)
Cancer is a disease of the chromosomes, and chromosomal instability in cancer disrupts gene function by either inactivating tumor suppressor genes or activating growth-promoting oncogenes. (nshealth.ca)
The chromosomal basis for these aberrations is either translocations, which change the integrity of genes, or abnormal numbers of chromosomes, a condition referred to as aneuploidy, which results in abnormal gene expression levels. (nshealth.ca)
DNA Repair and Chromosomal Translocations -- CINcere modelling: What have mouse models for chromosome instability taught us? (nshealth.ca)
Telomere Dysfunction, Chromosomal Instability and Cancer -- Genetic Instability and Disease Prognostication -- Causes of Chromosomal Instability -- Patterns of Chromosomal Aberrations in Solid Tumors -- Yeast as Models of Mitotic Fidelity -- The Diverse Effects of Complex Chromosome Rearrangements and Chromothripsis in Cancer Development. (nshealth.ca)
Heterochromatinized elements, such as B chromosomes and other supernumerary chromosomal DNA fragments have long been known to be associated with asexuality in both plants and animals, and are prime candidate regions for the evolution of multiple apomixis factors controlling the individual elements of apomixis. (plantcytogenomics.org)

Sex hormones and genes on the sex chromosomes are not only key factors in the regulation of sexual differentiation and reproduction but they are also deeply involved in brain homeostasis. (mdpi.com)
Dosage compensation is a process whereby genes on the sex chromosomes achieve equal gene expression which prevents deleterious side effects from having too much or too little expression of genes on sex chromsomes. (asu.edu)

In meiosis, the genetic information inherited from a person's mother and father is recombined through crossing over (exchange between homologous chromosomes). (msdmanuals.com)
Each gene has a specific location (locus), which is typically the same on each of the 2 homologous chromosomes. (msdmanuals.com)
recombinational DNA repair (promoted during meiosis because homologous chromosomes pair at that time) and complementation (also known as heterosis , hybrid vigor or masking of mutations). (wikizero.com)
The human genome consists of 23 pairs of chromosomes ( 22 pairs of homologous chromosomes and one pair of sex chromosomes ). (amboss.com)
Each human cell contains 23 pairs of homologous chromosomes (corresponding in structure and genetic information, i.e., 23 chromosomes are inherited from each parent). (amboss.com)
The two homologous chromosomes contain identical alleles at a given locus . (amboss.com)
The two homologous chromosomes contain different alleles at a given locus . (amboss.com)

The dominant theoretical model for the early stages of sex chromosome evolution 3 , 4 , 5 predicts that recombination will be selected against in the region between a sex determining gene and a nearby locus with alleles of sex-specific effect. (nature.com)
Most alleles come in pairs, but there are some behind the scenes helper chromosomes that come in triples instead. (stackexchange.com)
The genes that occupy the same locus on each chromosome of a pair (one inherited from the mother and one from the father) are called alleles. (msdmanuals.com)
All homologous chromosome pairs contain two variant forms of the same gene , called " alleles ," which are passed down from parent to offspring. (amboss.com)
The term is often used to describe a combination of alleles at one or more specific loci . (amboss.com)
Sex alleles are found only in some of the sexual accessions, have higher nucleotide divergence and lower transcriptional activity compared to apo alleles. (plantcytogenomics.org)

Compared to autosomes and the X chromosome, relatively few numerical or structural cytogenetic abnormalities have been reported for ECAY. (veteriankey.com)
Contributing to the sex differences in gene expression between males and females are the sex chromosomes, X and Y. Gene expression differences on the autosomes and the X chromosome between males (46, XY) and females (46, XX) may help inform on the mechanisms of sex differences in human health and disease. (asu.edu)

These results provide empirical support for longstanding models of sex chromosome catalysis, and suggest an important role for sexual selection and sexual conflict in genome evolution. (nature.com)
Comparative genomics analyses were used to infer additional X-linked loci in the green anole, RNAseq data from male and female samples were anayzed to quantify patterns of sex-biased gene expression across the genome, and the extent of dosage compensation on the anole X chromosome was characterized, providing evidence that the sex chromosomes in the green anole are dosage compensated. (asu.edu)
In chapter 1, I will introduce a method to align RNA-Seq reads to a sex chromosome complement informed reference genome that considers the X and Y chromosomes' shared evolutionary history. (asu.edu)
The genetic basis of mating in fungi is controlled by specific loci in their genome. (mycologyst.art)
We revealed the origin of the gene in the apomixis genome on an apomixis-specific, supernumerary heterochromatic Boechera chromosome (Boe1). (plantcytogenomics.org)
We reveal that repeated ecological and morphological diversification along a common environmental axis is associated with both genome-wide allele frequency shifts and a specific, larger effect, locus, associated with the gene edar . (biorxiv.org)
In the former scenario, reproductive isolation may be unlikely to evolve because the chance that loci under divergent selection will be linked to a trait that causes reproductive isolation is slim, and a genome-wide correlated response to divergent selection is lacking 16 , 17 . (biorxiv.org)

the smaller Y chromosome carries genes that initiate male sex differentiation, as well as a few other genes. (msdmanuals.com)
It is, therefore, not clear whether haploinsufficiency for Xp genes in XO cells or the overdose of MSY and PAR genes in Xi(Y) cells is the cause of abnormal sex determination and differentiation in these animals. (veteriankey.com)
Genomic analyses are crucial for a comprehensive picture of sex chromosome differentiation and dosage compensation, in addition to understanding speciation. (asu.edu)

Males are normally hemizygous for the X chromosome, having only one copy. (wikipedia.org)
Males are hemizygous for the X chromosome, whereas females have two X chromosome copies. (asu.edu)

Genetic studies have repeatedly implicated the DYX2 locus, specifically the genes DCDC2 and KIAA0319 , in RD, with recent studies suggesting they also influence LI, verbal language, and cognition. (springer.com)
These have identified several genetic loci associated with CKD, including variants in UMOD, SHROOM3, solute carriers, and E3 ubiquitin ligases. (news-medical.net)
DNA (deoxyribonucleic acid) is the cell's genetic material, contained in chromosomes within the cell nucleus and mitochondria. (msdmanuals.com)
The condition can result from deletions or rearrangements of genetic material from several different chromosomes. (medlineplus.gov)
These data have enabled us to construct a high-resolution genetic map for the approximately 3-cM interval between DXWas70 and Cybb on the mouse X chromosome, which encompasses 10 loci. (mpi.nl)
The phenomenon whereby genetic factors at a particular locus are shared between two or more traits (not to be confused with declaring the exact causal variant). (car-ix.net)
An eQTL is a locus that explains a fraction of the genetic variance of a gene expression phenotype . (car-ix.net)
Standard eQTL analysis involves a direct association test between markers of genetic variation with gene expression levels typically measured in tens or hundreds of individuals. (car-ix.net)
Instead of male and female genders, many fungi have mating types, designated by specific genetic loci. (mycologyst.art)

An important breakthrough in horse Y chromosome research came with the availability of new genomics tools and resources, such as large-insert genomic bacterial artificial chromosome (BAC) libraries (for review, see Rubes et al. (veteriankey.com)
2009), chromosome flow sorting and microdissection technology, and various genomic DNA amplification systems (Telenius et al. (veteriankey.com)
However, direct identification of genomic elements is typically hindered as apomixis linked loci are commonly found in recombination-suppressed and repetitive regions. (plantcytogenomics.org)
Studying the identity and genomic distribution of loci involved in ecological speciation, particularly in cases where parallel ecomorphological contrasts have arisen multiple times, is one way to address these questions. (biorxiv.org)

This is because, typically, females have two copies of the X-chromosome, while males have only one copy. (wikipedia.org)
What is a plausible sex determination system with males, females and multiple hermaphroditic sexes? (stackexchange.com)
Sex determination involves three sex chromosomes: X (tied to females and ferms), Y (tied to males and merms), and Z (tied to herms in general). (stackexchange.com)
For example, an XYZ system didn't work, even if I employed a second pair of sex chromosomes (like the white-throated sparrow appears to be slowly evolving to), because every version resulted in either males/females or herms being unable to produce the other. (stackexchange.com)
Since the overall reproductive output of a population is typically determined by the fertility of its females, which are rate-limiting in gamete production, a successful way to genetically control a population should involve artificially biasing the sex ratio towards males. (geneconvenevi.org)
This would prevent the transmission of X chromosome bearing gametes to the progeny, generating only males. (geneconvenevi.org)
pairs of autosomes and 1 pair of sex chromosomes (XY in Institut de Recherche pour le Développement, Montpellier, males, XX in females) (8). (cdc.gov)
In species with highly heteromorphic sex chromosomes, the degradation of one of the sex chromosomes can result in unequal gene expression between the sexes (e.g., between XX females and XY males) and between the sex chromosomes and the autosomes. (asu.edu)

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. (medlineplus.gov)

Lyon hypothesis (X-inactivation) Sex chromosome abnormalities may involve aneuploidy, partial deletions or duplications of sex chromosomes, or mosaicism. (msdmanuals.com)
The only true Y chromosome structural rearrangements, reported so far, are large-scale ECAY deletions in 64,XY sex reversal mares (Raudsepp et al. (veteriankey.com)

The dominant model of sex chromosome evolution posits that recombination is suppressed between emerging X and Y chromosomes in order to resolve sexual conflict. (nature.com)
[ 5 , 6 ] A few reported cases have been associated with an autosomal dominant inheritance pattern, for which a locus was found on chromosome 9p. (medscape.com)

In humans, somatic (nongerm) cell nuclei normally have 46 chromosomes in 23 pairs. (msdmanuals.com)
Germ cells (egg and sperm) divide through meiosis, which reduces the number of chromosomes to 23-half the number in somatic cells. (msdmanuals.com)
10 Germline variants of IKZF1 are observed in familial B-ALL and immunodeficiency, 16 , 17 and somatic IKZF1 alterations are enriched in Philadelphia chromosome (Ph)-positive, Phlike, and DUX4 -rearranged B-ALL. (haematologica.org)
Germ cells only carry one-half of a somatic cell's chromosomes . (amboss.com)

In male heterogametic species, this could be achieved by the expression of a transgene-encoded endonuclease during spermatogenesis that would target and "shred" the X chromosome at several loci. (geneconvenevi.org)
The number and size of these chromosomes can vary greatly among different fungal species. (mycologyst.art)
Sex, however, has evolved as the most prolific means of species branching into the tree of life . (wikizero.com)
Asexual reproduction through seeds in plants (i.e. apomixis) is a heritable trait and apomixis linked loci have been identified in multiple species. (plantcytogenomics.org)

Although we have a detailed understanding of the evolutionary consequences of the loss of recombination for sex chromosome evolution 1 , 2 , we still do not understand the evolutionary forces acting to halt recombination in the first place. (nature.com)
The sex system is stable and is in no danger of having any of the sexes being outcompeted within the foreseeable future on an evolutionary timescale. (stackexchange.com)
In the mouse, the order of loci and evolutionary breakpoints (EB) has been established as centromere-(DXWas70, DXHXF34h)-EB-Clcn5-(Syp, DXMit55, DXMit26)-Tfe3-Gata1-EB-Xk-Cybb-telomere. (mpi.nl)
In the proximal region of the human X chromosome short arm, the position of evolutionary breakpoints with respect to key loci has been established as DMD-EB-XK-PFC-EB-GATA1-C1CN5-EB-DXS1272E-ALAS2-E B-DXF34-centromere. (mpi.nl)
Since hypotheses for the origin of sex are difficult to verify experimentally (outside of evolutionary computation ), most current work has focused on the persistence of sexual reproduction over evolutionary time. (wikizero.com)

I'm trying to come up with a plausible sex determination system that has the characteristics listed below. (stackexchange.com)
Most of these conditions are associated with abnormal sex determination and/or sexual development (for review, see Villagomez et al. (veteriankey.com)
The green anole has XX/XY sex determination, but the content of the X chromosome and its evolution have not been described. (asu.edu)

Additionally, there are two reports about infertile stallions having XXY sex chromosomes - an equine counterpart to human Kleinfelter syndrome (Kubien et al. (veteriankey.com)

Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. (genome.gov)
In humans, aneuploidy would be any number of chromosomes other than the usual 46. (genome.gov)

Rearrangements are typically G- and R-band cryptic. (atlasgeneticsoncology.org)
This might be because rearrangements in the gene-poor Y chromosome have milder effect on the phenotype, as a result of which the affected individuals escape attention and are not subjected to cytogenetic analysis. (veteriankey.com)

The C4 locus encodes for C4A and C4B genes, which show common but complex structural variation. (biomedcentral.com)

We show that although the nascent Y chromosome encompasses nearly half of the linkage group, there has been no perceptible degradation of Y chromosome gene content or activity. (nature.com)

A few cases have been reported in females, often having X-autosome translocations involving the OCRL1 locus, explained by the inactivation of the normal X chromosome by the translocation. (medscape.com)

Some genes occur in multiple copies that may be next to each other or in different locations in the same or different chromosomes. (msdmanuals.com)
Typically, only 10-20 copies of ECAY are microdissected and amplified by DOP-PCR (Telenius et al. (veteriankey.com)

Sex chromosome abnormalities. (msdmanuals.com)

When an egg is fertilized by a sperm at conception, the normal number of 46 chromosomes is reconstituted. (msdmanuals.com)
Except for certain cells (for example, sperm and egg cells and red blood cells), the cell nucleus contains 23 pairs of chromosomes. (msdmanuals.com)

citation needed] As the X chromosome is one of the sex chromosomes (the other being the Y chromosome), X-linked inheritance is determined by the sex of the parent carrying a specific gene and can often seem complex. (wikipedia.org)
The pattern of inheritance of simple traits depends on whether the traits are controlled by genes on autosomes or by genes on sex chromosomes. (car-ix.net)

Otherwise the entire chromosome is recessive. (stackexchange.com)
In this review article, we discuss the clinical manifestations of autosomal recessive primary microcephaly (MCPH), its incidence, and molecular genetics, including a comprehensive review of the twelve known mapped loci (MCPH1-MCPH12). (biomedcentral.com)

An interstitial deletion of the pseudoautosomal region 1 (PAR1) of either of the sex chromosomes results in juxtaposition of the first noncoding exon of the P2RY8 gene to the first exon of CRLF2, such that CRLF2 expression from this chimeric locus is driven by the P2RY8 promoter. (atlasgeneticsoncology.org)

This process would shrink the pseudoautosomal region in favour of expanding X- and Y-specific regions, creating a male supergene on the Y chromosome containing multiple colouration loci and thereby resolving sexually antagonistic selection. (nature.com)
Fusion gene: a 320-kb large interstitial deletion within the pseudoautosomal region 1 (PAR1) on chromosome X [del(X)(p22.33p22.33)] and chromosome Y [del(Y)(p11.32p11.32)] results in juxtaposition of the first non-encoding exon of P2RY8 to the CRLF2 coding region to form P2RY8-CRLF2 fusion which leads to over-expression of full-length CRLF2. (atlasgeneticsoncology.org)

Fungi, like other eukaryotes, contain DNA organized into chromosomes within their nuclei. (mycologyst.art)

The probes have been used for molecular hybridizations (fluorescence in situ hybridization, or FISH) in clinical cytogenetics, Y chromosome mapping, sequencing, gene discovery, and comparative Y chromosome studies between the horse and other equids/ Perssodactyls. (veteriankey.com)

Using an identical approach, i together with estimated the fresh new SNP-depending heritability for each and every chromosome and you can analyzed heritability enrichment across some tissues on such basis as Genotype-Cells Term (GTEx) gene-expression abilities (47). (alanya-today.ru)

These analyses are fundamental in the design of control specimens present C-heterochromatic blocks in most of campaigns because their results will help determine the their 22 chromosomes, whereas non-Andean specimens have only 4-7 autosomes with C-banding. (cdc.gov)
We are now at a major shift in our ability to use museum specimens for molecular phylogenetics, where modern subgenomic sequencing techniques better allow for successfully sequencing hundreds to thousands of phylogenetically informative loci for historical specimens, including formalin- and fluid-preserved amphibians and reptiles. (bioone.org)

Each child gets one chromosome from each parent's XX,YY,ZZ pairs. (stackexchange.com)
Twenty-two of the pairs, chromosome numbers 1 to 22, the autosomes, are normally homologous (identical in size, shape, and position and number of genes). (msdmanuals.com)

Female carriers manifest characteristic lens opacities, but they typically have normal renal and neurologic function. (medscape.com)

[1] Another prominent theory, also discussed below, is that a primary advantage of outcrossing sex is the masking of the expression of deleterious mutations. (wikizero.com)

Sex chromosomes evolve once recombination is halted between a homologous pair of chromosomes. (nature.com)
Sex chromosomes are typically thought to evolve as recombination is halted between a homologous pair of chromosomes in one sex. (nature.com)

Skin manifestations of blue rubber bleb nevus syndrome (BRBNS) typically can be present at birth or evident in early childhood. (medscape.com)
The murine homologues of the loci for McLeod syndrome (XK), Dent's disease (CICN5), and synaptophysin (SYP) have been mapped to the proximal region of the mouse X chromosome and positioned with respect to other conserved loci in this region using a total of 948 progeny from two separate Mus musculus x Mus spretus backcrosses. (mpi.nl)

The sex chromosomes of the guppy ( Poecilia reticulata ) have been of interest for more than a century, following early reports that many sexually selected colour traits are passed through the patriline on the Y chromosome 8 , 9 . (nature.com)

There are five sexes: female, male, and three kinds of simultaneous hermaphrodites (berm, merm and ferm, collectively known as herms). (stackexchange.com)
Therefore, microdissected Y-chromosome probes are good for FISH but not suitable for cloning and sequencing of the male-specific or pseudoautosomal regions of the chromosome. (veteriankey.com)
The placenta is the DNA of the developing fetus and is typically XY male or XX female. (asu.edu)

Their action is crucial for the development of the brain, which presents different characteristics depending on the sex of individuals. (mdpi.com)

These gonadal hormones are produced by the hypothalamic-pituitary-gonadal (HPG) axis and have been shown to determine sex differences in adult HPA function after acute stress via their activational and organizational effects. (nature.com)
Moreover, questions remain regarding sex differences in the activity of the HPA axis following chronic stress and the underlying contributions of gonadal hormones and sex chromosomes. (nature.com)
The present review examines what is currently known about sex differences in the neuroendocrine response to stress, as well as outstanding questions regarding this sex bias. (nature.com)
Although it primarily focuses on the rodent literature, a brief discussion of sex differences in the human HPA axis is also included. (nature.com)
Strikingly, women are at twice the risk of men for developing many of these diseases, likely due to sex differences in the function and regulation of the HPA axis [ 5 ]. (nature.com)
Thus, understanding the nature and causes of such sex differences in the HPA axis following stress has important implications for understanding sex-biased risk for disease. (nature.com)
Much of what is known about sex differences in the stress-induced activity of the HPA axis and their underlying mechanisms comes from studies done in rodents. (nature.com)
The present review accordingly focuses on advances revealed from rodent studies in our understanding of sex differences in the stress-induced activity of the HPA axis in adulthood. (nature.com)
We conclude with a brief discussion of sex differences in the human HPA axis with the caveat that they are less pronounced than in rodents and are largely dependent on the stress modality. (nature.com)
Characterizing sex-specific gene expression among human tissues will help inform the molecular mechanisms driving sex differences in human health and disease. (asu.edu)

Schematic diagram of the human X chromosome indicating the location of the P2RY8 gene. (atlasgeneticsoncology.org)
Using this approach, I show that more genes are called as sex differentially expressed in several human adult tissues compared to a default reference alignment. (asu.edu)

Since the long arm of ECAY carries the MSY and the PAR, the cells with i(Y) are genetically similar to those with Y chromosome disomy (YY). (veteriankey.com)

Each pair consists of one chromosome from the mother and one from the father. (msdmanuals.com)
The 23rd pair, the sex chromosomes (X and Y), determines a person's sex as well as containing other functional genes. (msdmanuals.com)

High-resolution comparative mapping of the proximal region of the mouse X chromosome. (mpi.nl)

[2] [8] Early on, there are typically no symptoms. (wikipedia.org)

However, most GEP studies have typically been performed on whole tissue samples, containing varying degrees of tumor cell content, which results in uncertainties in data analysis. (lu.se)

However, the LD structure of the locus suggests that associations within TDP2 , ACOT13 , and C6orf62 are capturing a previously reported risk variant in KIAA0319 . (springer.com)

Two new susceptibility loci were found: the RNASET2-FGFR1OP-CCR6 region at 6q27 and an intergenic region at 4p14. (medscape.com)

Anatomy64

Organisms25

Diseases32

Chemicals and Drugs20

Analytical, Diagnostic and Therapeutic Techniques and Equipment23

Psychiatry and Psychology2

Phenomena and Processes162

Disciplines and Occupations2

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Named Groups1

Health Care3

Chromosomal11

Genes on the sex chromosomes2

Homologous chromosomes7

Alleles6

Autosomes and the X chromosome2

Genome7

Differentiation3

Hemizygous for the X chromosome2

Genetic9

Genomic4

Males8

Copy of the mutated gene1

Deletions2

Dominant2

Somatic4

Species4

Evolutionary5

Determination3

Additionally1

Aneuploidy2

Rearrangements2

Encodes1

Degradation1

Females1

Copies2

Abnormalities1

Sperm2

Inheritance2

Recessive2

Chimeric1

Pseudoautosomal region2

Nuclei1

Hybridization1

Genotype1

Specimens2

Pairs2

Characteristic1

Mutations1

Evolve2

Syndrome2

Traits1

Male3

Characteristics1

Differences10

Human2

Carries1

Pair2

Comparative1

Symptoms1

Results1

Suggests1

Found1