Articles tagged with Heterozygosity
A new genomic study offers a unique lens for understanding the extinction crisis in Hawai'i, revealing that there is still time to save the critically endangered honeycreeper 'akeke'e. With only 17 species of iconic honeycreepers remaining, efforts to control mosquito populations and conservation breeding programs are underway.
Researchers found a significant association between the KIT M541L variant and mastocytosis diagnosis in patients with systemic and cutaneous mastocytosis. The variant was identified in 19 individuals, mostly diagnosed with systemic mastocytosis, but without significant differences in symptomatology.
Researchers at the University of Alabama at Birmingham discovered that the ALG6 variant is associated with altered phenotypes in patients with RP59, including delayed peripheral rod degeneration and diminished macular cone photoreceptor health. This study highlights the complex effects of modifier genes in human genetic disease.
A single infusion of CRISPR-based gene-editing therapy significantly reduced LDL cholesterol levels in people with heterozygous familial hypercholesterolemia, a condition that increases heart attack risk. The treatment has shown potential as a long-term or permanent option for high LDL-C control.
Researchers improved biomass-related traits in sheepgrass using a custom genome editing system, revealing its potential for rapid genomic breeding. The study increased understanding of sheepgrass genomics and established a precedent for its genetic improvement.
Researchers found that DNA damage accumulates in arteries with aging and contributes to impaired vascular function. In mice lacking or heterozygous for the double-strand DNA break repair protein ATM kinase, aging accelerated vascular dysfunction, including increased arterial stiffness and oxidative stress.
Researchers from Kobe University found that birds dispersing the eggs of eaten insects' help flightless stick insects expand their geographical range. Genetic analysis revealed a correlation between geographic distance and genetic differentiation among populations.
Research shows that asexual reproduction in stick insects, such as parthenogenesis, reduces genetic variability and slows down adaptation to environmental changes. This negatively impacts the speed of adaptation and genetic diversity in these insects.
Research on hybrid threespine stickleback fish found that genetic signatures of hybrid incompatibilities are environment-dependent. Fish raised in ponds had a lower incidence of mismatched genes due to ecological pressures, whereas lab-reared fish showed no difference in heterozygosity.
A UCLA study published in Science found that desert tortoises with higher genetic variation had higher survival rates after relocation. The researchers analyzed blood samples from 79 surviving and 87 deceased tortoises and found that survivors averaged 23% greater heterozygosity than those that perished.
Scientists successfully induced collecting duct cysts from human iPS cells with PKD1 homozygous mutation, mirroring clinical conditions. This breakthrough offers a new disease model and potential therapeutic avenues for ADPKD treatment.
A study by Kazan Federal University's Gene and Cell Technology Lab found a link between the CCR5 genotype and susceptibility to HFRS in Tatarstanis. Patients with the homozygous genotype had a longer oliguric phase and lower platelet count compared to those with the heterozygous genotype.
The study found that PCSK9 inhibitors are not cost-effective for patients with heterozygous familial hypercholesterolemia or atherosclerotic cardiovascular disease, requiring annual drug prices to be reduced by over two-thirds. Reducing prices could lower US health care costs by $29 billion over 5 years.
Researchers from BGI Shenzhen assembled a 5.15 Gb genome with a haplotype N50 of 484 kb, providing exhaustive variants information and novel sequences/genes. This achievement enables the development of new sequencing and assembly techniques for complex genomes.
The Jujube genome has the highest degree of heterozygosity among sequenced plants, but BGI Tech's sequencing technology successfully decoded 98.6% of its genes, identifying 32,808 genes. This breakthrough will facilitate genetic improvement and selective breeding of Buckthorn fruit trees.
A genetic study reveals that climate change has significantly impacted Antarctic fur seals, leading to a decline in the population due to changes in food availability. The seals' ability to adapt is hindered by the lack of heritability of 'fitness genes', resulting in a decrease in survival and breeding success.
Male Alpine chamois with heterozygous immune genes survive longer than those with identical copies, particularly in areas affected by scabies. This sex-specific fitness benefit may be due to the enhanced immunity conferred by different immune gene variants.
A new study published in Molecular Ecology found that hares with genetic variation at a specific gene locus have higher reproductive success, including increased fertility and fecundity. The research suggests that variability at the individual level can provide advantages for survival and reproduction.
Researchers found BRAF mutations in all nevus cells but wild-type BRAF predominated in nine of 13 cases. Heterozygous patients showed simultaneous amplification of BRAF and a neighboring polymorphism, suggesting alternative melanocyte transformation mechanisms.
Researchers have identified a set of 16 genes that can reliably distinguish carriers of recessive genetic disorders from non-carriers. These genes can be used to develop clinical tests to identify carriers of diseases such as Nijmegen breakage syndrome, which exhibit distinct gene expression patterns compared to controls.
Researchers discover a novel mechanism of heterosis in naturally occurring plant populations. Human actions inadvertently favor heterozygous volunteers, leading to the persistence of high heterozygosity despite inbreeding.
Research on blue tits found that extra-pair copulations with distant males lead to more heterozygous offspring, resulting in improved survival and reproductive success. This study suggests that females can benefit from promiscuity by increasing the genetic quality of their progeny.
Researchers identify XOR as essential for enveloping milk fat droplets with phospholipid bilayer. Heterozygous XOR-mutant females fail to secrete milk fat, leading to premature involution of mammary gland and lactation insufficiency.