Negative association findings and research involving the serotonin transporter gene, FMR1, RELN, WNT2, HOXA1, and HOXB1 genes may be found elsewhere on this site . (neurotransmitter.net)
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by a limited expansion of CGG repeats in the FMR1 gene. (bvsalud.org)
Specific aims of our work included testing if naphthyridine-based molecules could (i) block FMRpolyG synthesis by binding to CGG repeats in RNA, (ii) reverse pathological alterations in affected cells and (iii) preserve the content of FMRP, translated from the same FMR1 mRNA. (bvsalud.org)
Putative1
in contrast to simple family structures reported for a variety of angiosperm nsltp genes, the putative pine nsltp gene is a member of a complex family. (liverpool.ac.uk)
Inheritance3
These laws describe the inheritance of traits linked to single genes on chromosomes in the nucleus. (wikipedia.org)
citation needed] In Mendelian inheritance, genes have only two alleles, such as a and A. Mendel consciously chose pairs of genetic traits, represented by two alleles for his inheritance experiments. (wikipedia.org)
genetic analysis of cinnamyl alcohol dehydrogenase in loblolly pine: single gene inheritance, molecular characterization and evolution. (liverpool.ac.uk)
Allele2
Although the allele "e" is a recessive allele on the extension-locus itself, the presence of two copies leverages the dominance of other coat colour genes. (wikipedia.org)
The number of repeat units differs between individuals, resulting in highly complex allele polymorphisms. (researchsquare.com)
Single gene1
A rabbit's coat color is determined by a single gene that has at least four different alleles. (wikipedia.org)
Chromosome2
citation needed] When genes are located on the same chromosome and no crossing over took place before the segregation of the chromosomes into the gametes, the genetic traits will be inherited in connection, because of the genetic linkage. (wikipedia.org)
Domestic cats have a gene with a similar effect on the X-chromosome. (wikipedia.org)
Traits2
In cases of co-dominance, the genetic traits of both different alleles of the same gene-locus are clearly expressed in the phenotype. (wikipedia.org)
To provide in vivo evidence that the CTG expansion and MBNL inhibition axis leads to the presentation of autistic traits, we demonstrate that CTG expansion and MBNL-null mouse models recapitulate autism-relevant mis-splicing profiles and demonstrate social deficits. (bvsalud.org)
Protein4
Many human genes, including one for a protein that controls cholesterol levels in the blood, show co-dominance too. (wikipedia.org)
People with the heterozygous form of this gene produce two different forms of the protein, each with a different effect on cholesterol levels. (wikipedia.org)
Degeneration of neurons in FXTAS cell models can be triggered by accumulation of polyglycine protein (FMRpolyG), a by-product of translation initiated upstream to the repeats. (bvsalud.org)
lipid transfer protein genes of loblolly pine are members of a complex gene family. (liverpool.ac.uk)
Autistic2
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)
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)
Specific3
These highly individual-specific number of repeats and the abundance of motifs have contributed to the polymorphism of STR loci. (researchsquare.com)
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)
xylem-specific gene expression in loblolly pine. (liverpool.ac.uk)
Autism8
The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (neurotransmitter.net)
In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region. (neurotransmitter.net)
CONCLUSIONS: A strong association of autism with SNPs within the SLC25A12 gene was demonstrated. (neurotransmitter.net)
Tandem repeat expansions are enriched in autism spectrum disorder, including CTG expansion in the DMPK gene that underlines myotonic muscular dystrophy type 1. (bvsalud.org)
We found that inhibition of muscleblind-like (MBNL) splicing factors by expanded CUG RNAs alerts the splicing of autism-risk genes during brain development especially a class of autism-relevant microexons. (bvsalud.org)
Our findings indicate that DMPK CTG expansion-associated autism arises from developmental mis-splicing. (bvsalud.org)
Genetic2
If the genotypes of both parents in a genetic cross are known, Mendel's laws can be used to determine the distribution of phenotypes expected for the population of offspring. (wikipedia.org)
citation needed] If one or more genes cannot be expressed because of another genetic factor hindering their expression, this epistasis can make it impossible even for dominant alleles on certain other gene-loci to have an effect on the phenotype. (wikipedia.org)
Individuals2
Mendel's principle of segregation of genes applies too, as in the F2-generation homozygous individuals with the phenotypes of the P-generation appear. (wikipedia.org)
Individuals can develop a recessive trait in the phenotype dependent on their sex-for example, colour blindness and haemophilia (see gonosomal inheritances). (wikipedia.org)
Developmental1
the gene encoding the monolignol biosynthetic enzyme cinnamyl alcohol dehydrogenase (cad, e.c. 1.1.1.195) can be expressed in response to different developmental and environmental cues. (liverpool.ac.uk)
Found1
An individual usually has only two copies of each gene, but many different alleles are often found within a population. (wikipedia.org)
Present2
Short tandem repeats (STRs) are widely present in the human genome. (researchsquare.com)
Short tandem repeats (STRs), also known as microsatellites, are repetitive DNA sequences consisting of 1-6-bp motifs present in a genome. (researchsquare.com)
Human1
citation needed] Many other genes have multiple alleles, including the human genes for ABO blood type. (wikipedia.org)
These laws describe the inheritance of traits linked to single genes on chromosomes in the nucleus. (wikipedia.org)
citation needed] When genes are located on the same chromosome and no crossing over took place before the segregation of the chromosomes into the gametes, the genetic traits will be inherited in connection, because of the genetic linkage. (wikipedia.org)
Homozygous1
Mendel's principle of segregation of genes applies too, as in the F2-generation homozygous individuals with the phenotypes of the P-generation appear. (wikipedia.org)
Neurodegenerative1
Kennedy's disease (KD) or spinobulbar muscular atrophy is a hereditary X-linked, progressive neurodegenerative condition caused by an expansion of the CAG triplet repeat in the first exon of the androgen receptor gene. (nih.gov)
Pathogenic1
Other expanded repeats can be translated into proteins containing a pathogenic stretch of repeated amino acids by a novel mechanism called repeat-associated non-AUG (RAN) translation [ 12 ], and these proteins could contain compositionally biased amino acids. (biomedcentral.com)
Single1
A rabbit's coat color is determined by a single gene that has at least four different alleles. (wikipedia.org)
Form2
People with the heterozygous form of this gene produce two different forms of the protein, each with a different effect on cholesterol levels. (wikipedia.org)
The phenotype in its full form is only expressed in males and presents as weakness and wasting of the upper and lower limbs and bulbar muscles associated with absent reflexes. (nih.gov)