Homologue gene is located on chromosome gene deletion. Medical search. Frequent questions

We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
X linked Alport syndrome (ATS, OMIM 301050) is a hereditary glomerulonephritis resulting from either point mutations or intragenic deletions of the COL4A5 gene encoding the α5 chain of type IV collagen. (bmj.com)
In humans, mutations affecting the genes of this family are associated with specific diseases. (sdbonline.org)
Heterozygous null mutations in each autism gene are demonstrated to have normal baseline neurotransmission and PHP. (sdbonline.org)
A subsequent electrophysiology-based genetic screen identifies the first known heterozygous mutations that commonly genetically interact with multiple ASD gene orthologs, causing PHP to fail. (sdbonline.org)
Constitutional mutations affecting this gene are associated with several conditions, collectively termed PTEN hamartoma tumour syndromes (PHTS). (biomedcentral.com)
APC gene mutations on chromosome 5q21. (pdfcookie.com)
Deletion or mutations of their encoding genes usually severely impair either oogenesis or spermatogenesis or both. (ijbs.com)
In human, an array of four DAZ genes ( DAZ 1-4) is located in two clusters on the Y chromosome and mutations of these genes cause severe oligospermia or azospermia [ 1 ]. (ijbs.com)
An expanding number of degenerative disorders are associated with mutations in the genes encoding MFN2 and OPA1, including Charcot-Marie-Tooth disease type 2A and autosomal dominant optic atrophy. (centrodinoferrari.com)
Recent advances in understanding the molecular events underlying hypohidrotic ectodermal dysplasia (HED) caused by mutations of the genes encoding proteins of the tumor necrosis factor α (TNFα)-related signaling pathway have been presented. (springer.com)
Novel data were reviewed and discussed on the structure and functions of the components of TNFα-related signaling pathway, the consequences of mutations of the genes encoding these proteins, and the prospect for further investigations, which might elucidate the origin of HED. (springer.com)
HED embraces a genetically heterogeneous group of diseases and is due to mutations of several genes that encode components of the tumor necrosis factor α (TNFα)-related signaling pathway (Cluzeau et al. (springer.com)
The purpose of this report is to review current literature on the structure and function of components of the TNFα-related signaling pathway, to present a novel approach to their contribution in the differentiation of skin appendages and to discuss the role of mutations of genes encoding components of this pathway in the origin of HED. (springer.com)
Mutations of these genes are responsible for systemic tooth agenesis, in addition to the defects of other ectodermal structures, and this review is limited to description of the function of their protein products. (springer.com)
The molecular basis of non-syndromic tooth agenesis, which is caused by mutations of other genes mainly WNT10A , (Arte et al. (springer.com)
Phenotypic analysis of these ' in locus ' mutations based on both expression of Kni protein and adult wing phenotypes, reveals novel unexpected features of L2-CRM function including evidence for a chromosome pairing-dependent process that promotes transcription. (elifesciences.org)
used genome editing to make mutations in a stretch of DNA that regulates the gene involved in wing vein formation. (elifesciences.org)
The effects of these mutations unexpectedly suggested that pairs of chromosomes might be interacting to control the activity of this gene. (elifesciences.org)
The aim of the study was to screen the mutation of TBX1 and CRKL in isolated CTDs Chinese patients without 22q11.2 deletion and identify the pathomechanism of the missense mutations. (biomedcentral.com)
in 2016, a tenth type was defined based on mutations in the AP3D1 gene. (medscape.com)

The specific gene that encodes RhoA, RHOA, is located on chromosome 3 and consists of four exons, which has also been linked as a possible risk factor for atherothrombolic stroke. (wikipedia.org)
The lilli gene encodes a nuclear protein related to the AF4/FMR2 family. (sdbonline.org)
The gene encodes α/ß-hydrolase domain 2 (Abhd2), one of 23 members of the ABHD gene family. (bvsalud.org)
Here we report the construction of a deletion of cbeI (Cbes2438), which encodes a restriction endonuclease that is as a major barrier to DNA transformation of C. bescii . (biomedcentral.com)
This gene encodes a member of the trithorax group of transcriptional activators. (cancerindex.org)
For example, the TP53 gene, located on chromosome 17, encodes a 53-kd nuclear protein that functions as a cell cycle checkpoint. (medscape.com)

METHOD: Mutation screening of positional candidate genes was performed in two stages. (neurotransmitter.net)
2) lilli mutation strongly suppresses the rough eye phenotype of ectopically expressed phyllopod (Tang, 2001), and (3) lilli was identified in a screen for genes that enhance the embryonic lethal phenotype of dpp alleles (Su, 2001). (sdbonline.org)
Hereditary nonpolyposis colorectal cancer (HNPCC) - Mutation in genes involved in repairing DNA mismatches occurring during DNA replication. (pdfcookie.com)
Mutation causes deficiency in alpha-1 antitrypsin (chromosome 14) - May increases incidence of MSI (micro-satellite instability). (pdfcookie.com)
No mutation of CRKL gene was found. (biomedcentral.com)
This is the first human missense mutation showing that TBX1 is a candidate causing isolated CTDs in Chinese patients without 22q11.2 deletion. (biomedcentral.com)
HPS-2 is caused by a mutation in the gene encoding the beta-3A subunit of the heterotetrameric AP3 complex ( AP3BA ), which assists in the vesicle formation from the trans-Golgi network or late endosome. (medscape.com)
HPS-2 is caused by a mutation in the gene encoding the beta-3A subunit of the heterotetrameric AP3 complex ( ADTB3A ), which resides on chromosome 5. (medscape.com)
Germline mutation of one TP53 allele is found in patients with Li-Fraumeni syndrome who generally inherit a mutated TP53 gene from an affected parent. (medscape.com)

Southern blot analysis of EcoRI-digested mouse cellular DNA with this probe detected four restriction fragments, all of which appear to be located on mouse chromosome 7, Northern blot analysis using the mouse probe demonstrated that related mRNA species were expressed in some normal adult mouse tissues. (shengsci.com)
We identified a locus on mouse chromosome 7 where several phospholipids in liver showed strong genetic association to distinct gene loci. (bvsalud.org)
The distal region of mouse chromosome 7 (Chr 7) contains at least ten imprinted genes, several of which are expressed from the maternal homologue in the placenta. (biomedcentral.com)
The imprinted region on distal mouse chromosome 7 (Chr 7) shares syntenic homology with human chromosome 11p15.5, a region associated with Beckwith-Wiedemann syndrome (BWS) and Wilms tumor. (biomedcentral.com)

Mutational genomics and targeted exome capture identify Sr26 and Sr61 as separate single genes that encode unrelated (34.8%) nucleotide binding site leucine rich repeat proteins. (nature.com)
DSB sites are preferentially located within chromatin loops, while several proteins that are required for DSB formation (Rec114, Mei4, and Mer2) localize on the chromosome axis (Blat et al. (springer.com)
These genes, encoding for RNA binding proteins, contain a highly conserved RNA recognition motif and at least one DAZ repeat encoding for a 24 amino acids sequence able to bind other mRNA binding proteins. (ijbs.com)
DAZ family proteins are located in the nucleus and/or in the cytoplasm of male and female germ cells at different developmental stages throughout the gametogenesis. (ijbs.com)
The most relevant proteins involved in the mitochondrial fusion process are three GTPase dynamin-like proteins: mitofusin 1 (MFN1) and 2 (MFN2), located in the outer mitochondrial membrane, and optic atrophy protein 1 (OPA1), in the inner membrane. (centrodinoferrari.com)
With the launch of the human proteome project (HPP), the association of Y chromosome proteins with pathological conditions has been increasingly explored. (biomedcentral.com)
Despite extensive studies on the effect of these genes on the development pathways, some MSY genes have remained as missing proteins with no experimental protein evidence due to highly transient and spatio-temporal restricted expression patterns. (biomedcentral.com)
The biotinylated proteins were affinity-purified for mass spectrometric analysis, and the candidate GRA proteins from BioID data set were identified by gene tagging. (biomedcentral.com)
Using NcGRA17-BirA* fusion protein as bait, we have identified some known GRAs and verified localization of 11 novel GRA proteins by gene endogenous tagging or overexpression in the Nc1 strain. (biomedcentral.com)
The impaired function of specific organelles indicates that the causative genes encode proteins operative in the formation of lysosomes and vesicles. (medscape.com)
Like Rb protein, many of the proteins encoded by tumor suppressor genes act at specific points in the cell cycle. (medscape.com)

Genetic and cytogenetic studies have revealed the presence of several pairing homoeologous ( Ph ) loci that ensure wheat behaves as a diploid during meiosis, with only homologous chromosomes of the same sub-genome (AA, BB or DD) pairing and recombining. (nature.com)
Sr61 orthologs are absent from current Thinopyrum elongatum and wheat pan genome sequences, contrasting with Sr26 where homologues are present. (nature.com)
A bacterial artificial chromosome (BAC) library has been constructed for use in bovine genome mapping using constructed for use in bovine genome mapping using the pBeloBAC11 vector. (shengsci.com)
To refine the QTL and link them to disease risk in humans, we asked if the human homologues of genes located at each QTL were associated with lipid traits in human genome-wide association studies (GWAS). (bvsalud.org)
Gene-interleaving patterns of synteny in the Saccharomyces cerevisiae genome: are they proof of an ancient genome duplication event? (biomedcentral.com)
Recent comparative genomic studies claim local syntenic gene-interleaving relationships in Ashbya gossypii and Kluyveromyces waltii are compelling evidence for an ancient whole-genome duplication event in Saccharomyces cerevisiae . (biomedcentral.com)
The existence of syntenic patterns between ancestral gene sets and A. gossypii , S. cerevisiae , and K. waltii , and other evidence, suggests that gene-interleaving relationships are the natural consequence of topological rearrangements in chromosomes and that a more gradual scenario of genome evolution involving segmental duplication and recombination constitutes a more parsimonious explanation. (biomedcentral.com)
In 2015, researchers reported that they had used components of the CRISPR/Cas9 genome editing system to edit genes so that they could propagate in a "Super-Mendelian" fashion. (elifesciences.org)
including the two researchers involved in the 2015 work - have used a new active genetic element called a CopyCat element and more traditional genome editing to analyze the control of a gene that coordinates the formation of a simple structure in a fruit fly - a vein in the wing. (elifesciences.org)
however, like other anthrax-causing strains most closely related to B. anthracis, this genome did not possess Bps-, Hbl-, or CytK-encoding genes. (cdc.gov)

Boule and Dazl are situated on autosomes while DAZ, exclusive of higher primates, is located on the Y chromosome. (ijbs.com)
In all species, Boule and Dazl are located in single copy on autosomes, while multiple DAZ genes are located on the Y chromosome. (ijbs.com)
Compared to autosomes and the X chromosome, relatively few numerical or structural cytogenetic abnormalities have been reported for ECAY. (veteriankey.com)
With the exception of EDA1 and NEMO , both localized on the X chromosome, all other genes encoding components of the TNFα-related signaling pathway involved in differentiation of skin appendages, are localized on the autosomes (Table 1 ). (springer.com)
X-degenerate sequences are single copy and broadly expressed genes which were evolved from ancestral autosomes to generate sex chromosomes. (biomedcentral.com)

Since Boveri's theory that chromosome abnormalities promote cancer, studies have attempted to elucidate the mechanisms behind the origins of chromosomal aberrations [ 1 ] . (encyclopedia.pub)
CIN can promote selective advantage to cancer cells by increasing the probability of novel chromosomal abnormalities, which can change the expression profile of the genes regulating cell division and differentiation, resulting in high proliferation rates [ 3 ] [ 4 ] . (encyclopedia.pub)
The mouse biliary glycoprotein gene (Bgp): partial nucleotide sequence, expression, and chromosomal assignment. (shengsci.com)
The mobili- tamases that are located on plasmids and that have been zation of a chromosomal resistance gene to a plasmid is of particular clinical interest because they are rapidly an important event because the mobilized gene is now ca- spreading through clinical populations of bacteria. (cdc.gov)
This is the first example of a targeted chromosomal deletion generated by homologous recombination in this genus and the resulting mutant, JWCB018 (Δ pyrFA Δ cbeI ), is readily transformed by DNA isolated from E. coli without in vitro methylation. (biomedcentral.com)
Deletion of the cbeI gene removes a substantial barrier to routine DNA transformation and chromosomal modification of C. bescii . (biomedcentral.com)
In both studies, regions of 'double synteny' (DS) were identified in which single genes or groups of genes expressed homology relationships with alternating chromosomal regions of S. cerevisiae . (biomedcentral.com)

Thus, this clone appears to encode a portion of the mouse biliary glycoprotein gene. (shengsci.com)
Currently, 160 different plasmidic alleles encode scended from a common ancestor that was incorporated in unique TEM -lactamase enzymes (www.lahey.org/Stud- ancient times into the chromosome of the ancestor of Kluy- ies), and all are descended from a single plasmidic ances- vera species through horizontal transfer. (cdc.gov)
We also evidence that CIII neurons make use of atypical depolarizing chloride currents to encode cold, and that overexpression of ncc69 -a fly homologue of NKCC1 -results in phenotypes consistent with neuropathic sensitization, including behavioral sensitization and neuronal hyperexcitability, making Drosophila CIII neurons a candidate system for future studies of the basic mechanisms underlying neuropathic pain. (elifesciences.org)
The impaired function of specific organelles indicates that the causative genes encode protein complexes that regulate vesicle trafficking in the endolysosomal system including AP-3, BLOC-1, BLOC-2, and BLOC-3. (medscape.com)

Genomic profiling also identifies genes associated with poor outcome in cases without molecular aberrations and specific genes that may be new therapeutic targets in adult ALL. (aacrjournals.org)
Chromosome localization and genomic structure of the KiSS-1 metastasis suppressor gene (KISS1). (shengsci.com)
These limitations of traditional selection methods, which are mainly based on phenotypic characteristics, have led to a growing interest in the identification and characterization of genes and genomic regions that regulate these economically important traits. (biomedcentral.com)
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)
Genomic imprinting is the mechanism by which haploid maternal and paternal genomes carry different epigenetic marks, resulting in monoallelic transcription of a subset of genes which are expressed exclusively from either the maternal or paternal allele [ 1 ]. (biomedcentral.com)
This highly sensitive phenotypic readout of enhancer function in a native genomic context reveals novel features of CRM function undetected by traditional reporter gene analysis. (elifesciences.org)

White (1973) reported a conservative karyotype consisting of 19 acrocentric chromosomes in males and 20 in females with X0♂/XX♀ sex chromosome system. (pensoft.net)

Transforming protein RhoA, also known as Ras homolog family member A (RhoA), is a small GTPase protein in the Rho family of GTPases that in humans is encoded by the RHOA gene. (wikipedia.org)
Among them, ROCK1 (Rho-associated, coiled-coil containing protein kinase 1) and DIAPH1 (Diaphanous Homologue 1, a.k.a. hDia1, homologue to mDia1 in mouse, diaphanous in Drosophila) are the best described. (wikipedia.org)
ZIP4 is a ZMM protein involved in homologous recombination and may act as a hub through physical interactions with components of the chromosome axis and other ZMMs 19 . (nature.com)
Wdr12, a mouse gene encoding a novel WD-Repeat Protein with a notchless-like amino-terminal domain. (shengsci.com)
What does this gene/protein do? (cancerindex.org)
What pathways are this gene/protein implicaed in? (cancerindex.org)
The role of MSY genes in important cellular processes such as transcription regulation, translation, and protein stability in males is vital not only in sex determination but also in sex-dependent organ development [ 3 ]. (biomedcentral.com)
Although the vast majority of protein-encoding genes (95%) show homology to S. cerevisiae genes, only ~10% are gene duplicates in DS patterns. (biomedcentral.com)
In 1944 it was realized that genetic transformation in bacteria was due to DNA and not protein and that DNA was the molecule responsible for heredity in genes and chromosomes [ 8 ]. (biomedcentral.com)
Less pronounced severity of immunodeficiency can be due to a novel 2 bp-deletion (c.3222_3223delTG) in the final exon of AP3B1 , causing a frameshift and thus a prolonged altered HPS2 protein. (medscape.com)
The place of the deletion is at the very C-terminal's end, preventing a complete loss of the HPS2 protein. (medscape.com)
[ 1 ] His prediction was subsequently supported by the cloning of the retinoblastoma tumor suppressor gene ( RB1 ) and by functional studies of the retinoblastoma protein, Rb. (medscape.com)

In wheat, a complex allohexaploid that has a diploid-like behaviour, meiotic recombination between homoeologous or alien chromosomes is suppressed through the action of several loci. (nature.com)
These data reveal a role for MSH7-3D in meiotic stabilisation of allopolyploidy and provides an opportunity to improve wheat's genetic diversity through alien gene introgression, a major bottleneck facing crop improvement. (nature.com)
The genetics of chromosome pairing and meiotic recombination is complicated by the allopolyploid nature of many crops, a widespread feature in the plant kingdom 3 . (nature.com)
Research aiming to identify Ph2 has resulted in the isolation of a number of candidate meiotic genes from this region on 3DS. (nature.com)
MMR consists of various genes and includes post-meiotic segregation (PMS) 2 which is a vital component of mutL-alpha. (oncotarget.com)
As CXXC1 is orthologous to Saccharomyces cerevisiae Spp1 that links DSB sites to the DSB machinery on the chromosome axis, we propose that these molecular interactions involved in the regulation of meiotic DSB formation are conserved in mouse meiosis. (springer.com)
In Saccharomyces cerevisiae , meiotic DSBs preferentially occur at nucleosome-depleted regions in gene promoters (Ohta et al. (springer.com)
The review provides a brief account of the structure of somatic and meiotic chromosomes, stressing the high conservation of structure in plants and animals, with emphasis on aspects that require further research. (biomedcentral.com)

However, an important challenge still facing breeders now is the ability to routinely perform DNA-introgression, a process by which distantly related chromosomes exchange genetic information that is passed onto progeny. (nature.com)
Phylogenomic studies using chromosome painting confirms the high conservation of DNA between even distantly related species [ 13 ]. (biomedcentral.com)

Construction and characterization of a bovine bacterial artificial chromosome library. (shengsci.com)

The locus control region (LCR) of mammalian beta-globin genes covers at least 17 kb at the 5' end of the gene cluster and has been implicated in chromatin domain opening, enhancement, and insulation from neighboring sequences. (shengsci.com)
The X-transposed region is a result of a recent X-to-Y transposition that has preserved 99% similarity to their X chromosome sequences. (biomedcentral.com)
We focus on (1) pairwise comparison of gene arrangement sequences in A. gossypii and S. cerevisiae , (2) reconstruction of gene arrangements ancestral to A. gossypii , S. cerevisiae , and K. waltii , (3) synteny patterns arising within and between lineages, and (4) expected gene orientation of duplicate gene sets. (biomedcentral.com)

This study identified a set of common phenotypic modifiers that interact with five independent autism gene orthologs [RIMS1 ( Rim ), CHD8 ( Kismet ), CHD2 ( Chd1 ), WDFY3 ( Blue cheese ), ASH1L ( ASH1 )] causing a common failure of presynaptic homeostatic plasticity (PHP) in Drosophila. (sdbonline.org)
The authors support the claims in the paper through the use of gene knockdown, behavioral experiments, neuroanatomy, and optogenetic activation in the Drosophila fruit fly. (elifesciences.org)
Thisbe (Ths) and Pyramus (Pyr), two closely related Drosophila homologues of the vertebrate fibroblast growth factor (FGF) 8/17/18 subfamily,are ligands for the FGF receptor Heartless (Htl). (biologists.com)

For this reason, PTEN is recognised as a tumour suppressor gene. (biomedcentral.com)
A tumour suppressor gene on chromosome 5q21. (pdfcookie.com)

The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)
Comparison with two other deletions extending beyond COL4A5 in the telomeric direction and generating only ATS allowed us to define the critical region for mental retardation (MR), which contains four candidate genes. (bmj.com)
The three genes ( CST6 , MEPE and HBB ) that were differentially expressed between the group of Finnsheep and Texel ewes kept in normal diet appeared to be candidate genes of prolificacy traits and will require further validation. (biomedcentral.com)

Resistance in W3757 was located on chromosome 6Ae#3, making it possible that Sr26 and Sr61 are alleles or related paralogues 18 . (nature.com)
The corresponding paternal alleles of these genes are silenced in cis by an incompletely understood mechanism involving the formation of a repressive nuclear compartment mediated by the long non-coding RNA Kcnq1ot1 initiated from imprinting centre 2 (IC2). (biomedcentral.com)

Its sequence, when compared to those of members of the human carcinoembryonic antigen gene family, was most homologous to the sequence of the human biliary glycoprotein (BGP) gene. (shengsci.com)

Supervised analysis of kinase genes revealed a high-level FLT3 expression in a subset of cases without molecular rearrangements. (aacrjournals.org)
Furthermore, a PDK1-consensus motif is located within the kinase domain of LKB1 and LKB1 gets phosphorylated by PDK1 in vitro. (sdbonline.org)
Another important class of tumor suppressor genes involved in cell cycle control and in the generation of human cancers is the cyclin-dependent kinase (CDK) inhibitors. (medscape.com)

Chromosome painting, performed on metaphase chromosomes preparations with an X chromosome specific probe (P5222-DG.5, Oncor), 17 confirmed that these hybrids contained only one X chromosome. (bmj.com)
We now recognize that, following DNA replication, the metaphase chromosome consists of two chromatids held together by a centromere and by cohesin. (biomedcentral.com)

2009 ). At a larger scale, DSB formation occurs in the context of a specific chromosome architecture that consists of chromatin loops anchored to a proteinaceous axis (Zickler and Kleckner 1999 ). (springer.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)
The results demonstrate both independent and overlapping functions of two FGF8 homologues in mesoderm morphogenesis and differentiation. (biologists.com)
We propose that the integration of Pyr and Ths function is required for robustness of Htl-dependent mesoderm spreading and differentiation, but that the functions of Pyr have become more specific, possibly representing an early stage of functional divergence after gene duplication of a common ancestor. (biologists.com)

Y chromosome harbors male‑specific genes, which either solely or in cooperation with their X-counterpart, and independent or in conjunction with sex hormones have a considerable impact on basic physiology and disease mechanisms in most or all tissues development. (biomedcentral.com)

These mutant phenotypes correlate with markedly reduced expression of the early zygotic genes serendipity alpha , fushi tarazu and huckebein , which are essential for cellularization and embryonic patterning (Tang, 2001). (sdbonline.org)
In this study, we integrated gene expression data with genetic association data to identify a single gene at the chromosome 7 locus as the driver of the phospholipid phenotypes. (bvsalud.org)
However, the remaining genes in the cluster ( Ascl2 , Phlda2 , and Cdkn1c ) have well-documented roles in placentation since knockouts of each of these genes result in drastic placental phenotypes. (biomedcentral.com)

The mechanisms of transmission of both discontinuous and continuous characteristics across the generations were unknown before Mendel's laws were explained at the turn of the 20th Century by the behavior of chromosomes in germ cells [ 2 , 3 ]. (biomedcentral.com)

The review highlights the discovery of oncogenes and suppressor tumor genes, underlining the crucial role of these achievements in cancer diagnosis and therapies. (jcancer.org)

BACKGROUND AND AIMS: Trefoil factor family (TFF) peptides and the chromosome 11p15.5 mucin glycoproteins are expressed and secreted in a site specific fashion along the length of the gastrointestinal tract. (embl.de)

Mismatch repair genes hMSH2 and hMSH1 on chromosomes 2p16 and 3p21 respectively. (pdfcookie.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)
About 95% of the Y chromosome is composed of the male-specific region of the Y chromosome (MSY), and the other 5% is two pseudoautosomal regions (PAR1 and PAR2) in two ends of this chromosome (Fig. 1 ). (biomedcentral.com)

Phosphatase and tensin homologue (PTEN) triggers a battery of intracellular signaling pathways, especially PI3K/Akt, playing important roles in the pathogenesis of multiple diseases, such as cancer, neurodevelopmental disorders, cardiovascular dysfunction and so on. (biomedcentral.com)

Analysis of the irradiation-mutant ph2a in comparison to the syntenic region on rice chromosome 1 estimated the deletion to be at least 80 Mb in size 22 , but more likely to span a 120 to 125 Mb region 23 on the terminal portion of 3DS. (nature.com)
This evidence was interpreted as proof of the WGD scenario, and syntenic patterns were considered an indication of the gene order of the most recent common ancestor. (biomedcentral.com)

The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053). (neurotransmitter.net)

tritici ( Pgt ) races over the past two decades 1 , 2 has motivated global efforts to identify effective stem rust (Sr) resistance genes. (nature.com)
SHV have been chromosomally located since the pre-antimicro- the expression of antibiotic-resistance genes, DNA uptake bial drug era ( 15 ), and they may have been mobilized to through transformation, or the process of conjugation. (cdc.gov)
The class A -lactamases have been the most fre- plasmidic ancestor, evidence shows that CTX-Ms have quently encountered plasmidic resistance genes. (cdc.gov)

Since genetic dissection of genes within alien segments in wheat was not possible due to lack of recombination, the question arose as to whether the apparent durability of such resistances might be due to multiple genes rather than a single gene. (nature.com)

Loss of FMR2 gene transcription causes mental retardation. (sdbonline.org)
The TBX1 gene, a member of a phylogenetically conserved T-box gene family of DNA-binding transcription factors, is mapped to the 22q11.2, and is hypothesised to be responsible for the cardiac phenotype of 22q11.2 deletion syndrome. (biomedcentral.com)

We and others have previously shown that genetic association can be used to make causal connections between gene loci and small molecules measured by mass spectrometry in the bloodstream and in tissues. (bvsalud.org)

The pathogenesis of CTDs is heterogeneous and involves multiple genes and environmental factors. (biomedcentral.com)

Almost every chromosome is affected by numeric or structural aberrations. (neurotransmitter.net)

STK11 is a tumor suppressor gene, in that its overexpression can induce a growth arrest of a cell at the G1 phase of the cell cycle and that somatic inactivation of the unaffected allele of STK11 is often observed in polyps and cancers from patients with Peutz-Jeghers syndrome. (medscape.com)
A number of these targets were confirmed by gene overexpression or endogenous tagging in the Nc1 strain, thereby validating our approach. (biomedcentral.com)

The current models for CIN involve telomere dysfunction, defective spindle assembly, sister chromatid cohesion, DNA double-strand breaks (DSB) repair, genes involved in the cell cycle, and epigenetic regulators. (encyclopedia.pub)
In addition, these alterations affect 3 principal categories of genes, as follows: proto-oncogenes, tumor suppressor genes, and DNA repair genes. (medscape.com)

Consequently, there is an ongoing need to expand resistance resources and to enhance gene stewardship through co-deployment of multiple resitance (R) genes, rather than single genes, to increase resistance durability. (nature.com)

Cyril Darlington pioneered plant cytogenetics in 1920-30 and made important advances in our understanding of mechanisms of chiasma formation and the behavior of sex chromosomes in meiosis [ 7 ]. (biomedcentral.com)

The identification and sequence of KiSS-1 (HGMW-approved symbol, KISS1), a human malignant melanoma metastasis-suppressor gene, was recently published. (shengsci.com)
P hosphatase and ten sin homologue ( PTEN ) is a cancer suppressor gene. (biomedcentral.com)
This article briefly discusses tumor suppressor genes and then focuses on the role of proto-oncogenes in childhood cancer. (medscape.com)
Inactivation of tumor suppressor genes, whose products normally provide negative control of cell proliferation, contributes to malignant transformation in various cell types. (medscape.com)

BCR/ABL + gene expression pattern was more heterogeneous and was most similar to ALL without known molecular rearrangements. (aacrjournals.org)
We also identified a set of 83 genes that were highly expressed in leukemia blasts from patients without known molecular abnormalities who subsequently relapsed following therapy. (aacrjournals.org)
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)
Understanding the molecular mechanisms underlying Y chromosome-related diseases can have a significant impact on the prevention, diagnosis, and treatment of diseases. (biomedcentral.com)
The future of molecular cytogenetics is likely to depend on a better knowledge of chromosome structure and function. (biomedcentral.com)
One of the purposes of this review is to encourage research into chromosome structure as this could help advance molecular cytogenetics. (biomedcentral.com)
However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases. (e-apem.org)

Previous studies have shown PMS2 to be deficient in DU145 cells and this lack of expression was confirmed by Western blotting whereas normal prostatic PWR-1E and RWPE-1 cells expressed this gene. (oncotarget.com)
We further analyzed genes affected by PMS2 expression and observe the apoptosis-related TMS1 gene to be significantly upregulated whereas anti-apoptotic BCL2A1 was downregulated. (oncotarget.com)
Almost half of the genes expressed in adults showed reduced expression, supporting a broad role for the three tested genes in steady-state transcript abundance. (sdbonline.org)
Genes showing reduced expression due to these RNAi treatments were short and enriched for genes encoding metabolic or enzymatic functions. (sdbonline.org)
Hundreds of genes were observed with sex-biased differential expression following treatment. (sdbonline.org)
To characterize gene expression signatures in acute lymphocytic leukemia (ALL) cells associated with known genotypic abnormalities in adult patients. (aacrjournals.org)
Gene expression profiles from 128 adult patients with newly diagnosed ALL were characterized using high-density oligonucleotide microarrays. (aacrjournals.org)
T-lineage ALL was characterized by a homogeneous gene expression pattern, whereas several subgroups of B-lineage ALL were evident. (aacrjournals.org)
As docking units, they influence the recruitment of the transcriptional machinery, thus establishing unique gene expression patterns that ultimately promote different biological outcomes. (aging-us.com)
METHODS: Expression of mucin genes in the UACL from small bowel tissue of patients with Crohn's disease was detected by in situ hybridisation, and localisation of the products by immunohistochemistry. (embl.de)
CONCLUSIONS: The UACL has a unique profile of mucin gene expression. (embl.de)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
Kcnq1ot1 expression can be abolished on the paternal chromosome by deleting IC2 (IC2KO allele). (biomedcentral.com)
Imprinted expression of several of the IC2-regulated genes critical to placentation is also faithfully recapitulated in DelTel7/IC2KO placentae. (biomedcentral.com)
Furthermore, loss of Y chromosome and/or aberrant expression of Y chromosome genes cause sex differences in disease mechanisms. (biomedcentral.com)
2013) Phage p1-derived artificial chromosomes facilitate heterologous expression of the FK506 gene cluster. (uni-tuebingen.de)
TP53 activates the expression of genes involved in apoptosis, cell cycle regulation (p21), and MDM2. (medscape.com)

We report information about the chromosome number and morphology, C-banding patterns, and localization of ribosomal DNA clusters and telomeric ( TTAGG ) n repeats. (pensoft.net)

In prostate, the functional role of this gene has never been reported and in this study, our aim was to investigate the effect of PMS2 on growth properties of prostate cancer (PCa) cells. (oncotarget.com)
This will facilitate the functional analyses of genes as well as metabolic engineering for the production of biofuels and bioproducts from biomass. (biomedcentral.com)
2017) AGOS: A Plug-and-Play Method for the Assembly of Artificial Gene Operons into Functional Biosynthetic Gene Clusters. (uni-tuebingen.de)

Pamphagidae species with the neo-X neo-Y/neo-X neo-X sex chromosome system from Central Asia ( Bugrov 1986 ) has drawn our attention to this family. (pensoft.net)

Depending on the type of abnormalities, it can be classified into numerical CIN (nCIN), characterized by chromosome gains and losses, and structural CIN (sCIN) represented by chromosome translocations [ 2 ] . (encyclopedia.pub)

Saleh O, Flinspach K, Westrich L, Kulik A, Gust B , Fiedler HP, Heide L. (2012) Mutational analysis of a phenazine biosynthetic gene cluster in Streptomyces anulatus 9663. (uni-tuebingen.de)

Within B-lineage ALL, distinct signatures were associated with ALL1/AF4 and E2A/PBX1 gene rearrangements. (aacrjournals.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 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)

It contains rare gene duplications, only 221 introns, and no transposons of subtelomeric repeats. (biomedcentral.com)

2016) DNA affinity capturing identifies new regulators of the heterologously expressed novobiocin gene cluster in Streptomyces coelicolor M512. (uni-tuebingen.de)
2015) Minimum Information about a Biosynthetic Gene cluster. (uni-tuebingen.de)

P hosphatase and ten sin homologue ( PTEN ), located on chromosome 10 (10q23.3), was initially reported by Li et al. (biomedcentral.com)

Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (neurotransmitter.net)
Two single nucleotide polymorphisms (SNPs) that showed evidence for divergent distribution between autistic and nonautistic subjects were identified, both within SLC25A12, a gene encoding the mitochondrial aspartate/glutamate carrier (AGC1). (neurotransmitter.net)

Taken together, our results demonstrate that all the distal chromosome 7 imprinted genes implicated in placental function are silenced by IC2 and Kcnq1ot1 on the paternal allele. (biomedcentral.com)

However, it is unknown whether some maternally expressed genes are silenced on the paternal homologue via a Kcnq1ot1- independent mechanism. (biomedcentral.com)

Structural organization of the human prostaglandin EP3 receptor subtype gene (PTGER3). (shengsci.com)
We report here the structural organization of the human EP3 gene (PTGER3). (shengsci.com)

Morgan, Sturtevant, Bridges and Muller constructed the first genetic linkage maps from recombination studies in crosses made in the fruit fly and from cytological preparations of its polytene salivary gland chromosomes [ 4 - 6 ]. (biomedcentral.com)

DAZ (Deleted in Azoospermia) family genes are important fertility factors in many animals including humans. (ijbs.com)

Although sex hormones play a key role in sex differences in susceptibility, severity, outcomes, and response to therapy of different diseases, sex chromosomes are also increasingly recognized as an important factor. (biomedcentral.com)
In this review, the involvement of Y chromosome genes in male-specific diseases such as prostate cancer and the cases that are more prevalent in men, such as cardiovascular disease, neurological disease, and cancers, has been highlighted. (biomedcentral.com)
In this article, the role of Y chromosome in male-specific diseases (male infertility and prostate cancer (PC), and the ones which primarily affect men such as cardiovascular diseases, inflammatory diseases, and various types of cancers has been reviewed (Fig. 2 ). (biomedcentral.com)

TBX1 and CRKL haploinsufficiency is thought to cause the cardiac phenotype of the 22q11.2 deletion syndrome. (biomedcentral.com)

RESEARCH analysis of the CTX-Ms that included a representative sam- site in a gene, among-site variation in evolutionary rate was pling of other class A -lactamases. (cdc.gov)
This polymorphism is primarily attributed to the various amount of Y heterochromatin, though earlier studies also suggest variation in the euchromatic portion of the chromosome (Power, 1988). (veteriankey.com)

Chromosome instability (CIN) is an increased rate where chromosome acquire alterations due to errors in cell division. (encyclopedia.pub)

Without doubt, the first human transforming gene, and more broadly, oncogenes and anti-oncogenes, had been previously theorized by Theodor Boveri. (jcancer.org)

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

Deletion of DAZ gene is the most common causes of infertility in humans. (ijbs.com)

Furthermore, our results demonstrate that the methylated maternal IC2 is not required for the regulation of nearby genes. (biomedcentral.com)

Caused by a heterozygous multi-gene deletion, 22q11.2 deletion syndrome (22q11DS) is a relatively common genetic disorder (1:4000 live births). (biomedcentral.com)

Human homologues of E.coli MUT HLS system repairing mismatches due to replication DNA errors. (pdfcookie.com)

Crop wild relatives provide a valuable source of genes and allelic variants for abiotic stress tolerance, disease resistance and quality traits that are important for breeding, particularly in the context of human population growth and a changing climate. (nature.com)
Translocations between MLL (a human trithorax -related gene) and AF4 or AF5q31 are involved in acute lymphoblastic leukemia (Wittwer, 2001, Tang, 2001 and Su, 2001). (sdbonline.org)
The human EP3 gene spanned more than 80 kb and was composed of 10 exons separated by nine introns. (shengsci.com)
Integration of mouse QTL with human GWAS yielded candidate gene drivers for 18 of the 21 QTL. (bvsalud.org)
The human Y chromosome is a haploid male-specific chromosome. (biomedcentral.com)
Amazingly, the first human cancer gene was cloned only thirty years ago. (jcancer.org)
Since the genetic code was deciphered much has been learnt about the chromosome structure shared by all organisms from yeast to human. (biomedcentral.com)
Although the exact functions of the causing genes have not yet been completely understood, these overgrowth syndromes can be good models to clarify the complex basis of human growth and help to develop better-directed therapies in the future. (e-apem.org)
HPS4 involves the human homolog of the mouse light-ear gene. (medscape.com)
Although carcinogenic roles for the INK4B, INK4C, INK4D, CIP1, KIP1, and KIP2 genes appear to be limited, INK4A is among the most commonly mutated genes in human tumors. (medscape.com)

4, 5 Until recently, the only known contiguous gene syndrome involving the COL4A5 gene was Alport syndrome and diffuse leiomyomatosis (ATS-DL, OMIM 308940), 6- 9 in which the deletion extends towards the centromere to include the first two exons of the adjacent COL4A6 gene. (bmj.com)
The targeting scheme involved replacement of exons 2 and 3 of Gpr56 by IRES-lacZ/MCI-neo, which results in the deletion of the starting ATG and causes a frame shift. (jneurosci.org)

The role of HMT gene variants in prostate cancer remains unknown. (cancerindex.org)

The TP53 gene is also capable of stimulating apoptosis of cells containing damaged DNA. (medscape.com)

These include providing new ways to explore how genes control the formation and activity of different organisms. (elifesciences.org)

Anatomy57

Organisms9

Diseases18

Chemicals and Drugs36

Analytical, Diagnostic and Therapeutic Techniques and Equipment35

Psychiatry and Psychology1

Phenomena and Processes166

Information Science4

Health Care3

Mutations22

Encodes6

Mutation9

Mouse chromosome4

Proteins11

Genome10

Autosomes5

Chromosomal7

Encode4

Genomic7

Acrocentric Chromosomes1

Protein12

Meiotic8

Distantly related2

Bacterial artificial1

Sequences3

Drosophila3

Tumour supp2

Candidate genes3

Alleles2

Homologous1

Kinase3

Metaphase2

Consists1

Differentiation3

Specific genes1

Phenotypes3

Germ cells1

Tumor genes1

11p15.51

Mismatch repair1

Pseudoautosomal regions2

Pathways1

Syntenic2

Locus1

Resistance genes3

Genetic dissection1

Transcription2

Loci1

Multiple genes1

Aberrations1

Overexpression2

Repair genes2

Single genes1

Meiosis1

Suppressor4

Molecular7

Expression17

Localization1

Functional3

Species1

Abnormalities1

Mutational1

Rearrangements3

Duplications1

Cluster2

PTEN1

Mitochondrial2

Distal1

Paternal1

Structural2

Preparations1

Azoospermia1

Diseases3

Haploinsufficiency1

Variation2

Instability1

Oncogenes1

Infertile1

Humans1

Regulation1

Heterozygous1

Replication1

Human10

Exons2

Variants1

Apoptosis1

Organisms1