Abstract:
:Circadian rhythms and sleep are two separate but intimately related processes. Circadian rhythms are generated through the precisely controlled, cyclic expression of a number of genes designated clock genes. Genetic variability in these genes has been associated with a number of phenotypic differences in circadian as well as sleep parameters, both in mouse models and in humans. Diurnal preferences as determined by the selfreported Horne-Ostberg (HO) questionnaire, has been associated with polymorphisms in the human genes CLOCK, PER1, PER2 and PER3. Circadian rhythm-related sleep disorders have also been associated with mutations and polymorphisms in clock genes, with the advanced type cosegrating in an autosomal dominant inheritance pattern with mutations in the genes PER2 and CSNK1D, and the delayed type associating without discernible Mendelian inheritance with polymorphisms in CLOCK and PER3. Several mouse models of clock gene null alleles have been demonstrated to have affected sleep homeostasis. Recent findings have shown that the variable number tandem polymorphism in PER3, previously linked to diurnal preference, has profound effects on sleep homeostasis and cognitive performance following sleep loss, confirming the close association between the processes of circadian rhythms and sleep at the genetic level.
journal_name
J Genetjournal_title
Journal of geneticsauthors
von Schantz Mdoi
10.1007/s12041-008-0074-7subject
Has Abstractpub_date
2008-12-01 00:00:00pages
513-9issue
5eissn
0022-1333issn
0973-7731journal_volume
87pub_type
杂志文章,评审abstract::To understand the phylogenetic position of Bostrychus sinensis in Eleotridae and the phylogenetic relationships of the family, we determined the nucleotide sequence of the mitochondrial (mt) genome of Bostrychus sinensis. It is the first complete mitochondrial genome sequence of Bostrychus genus. The entire mtDNA sequ...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-013-0259-6
更新日期:2013-01-01 00:00:00
abstract::The parasitoid wasp Nasonia vitripennis reproduces by haplodiploidy; males are haploid and females are diploid. Sex determination in Nasonia is not governed by complementary alleles at one or more sex loci. As in most other insects, the sex-determining pathway consists of the basal switch doublesex that is sex-specifi...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-010-0045-7
更新日期:2010-09-01 00:00:00
abstract::Expressed sequence tags (ESTs) provide researchers with a quick and inexpensive route for discovering new genes, data on gene expression and regulation, and also provide genic markers that help in constructing genome maps. Cacao is an important perennial crop of humid tropics. Cacao EST sequences, as available in the ...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-009-0030-1
更新日期:2009-08-01 00:00:00
abstract::In 1929 the British biologist John Burdon Sanderson Haldane published a hypothesis on the origin of life on earth, which was one of the most emblematic of the interwar period. It was a scenario describing the progressive evolution of matter on the primitive earth and the emergence of life. Firstly, this paper presents...
journal_title:Journal of genetics
pub_type: 传,历史文章,杂志文章
doi:10.1007/s12041-017-0831-6
更新日期:2017-11-01 00:00:00
abstract::We studied nucleotide sequence variation at the gene coding for dopa decarboxylase (Ddc) in seven populations of Drosophila melanogaster. Strength and pattern of linkage disequilibrium are somewhat distinct in the extensively sampled Spanish and Raleigh populations. In the Spanish population, a few sites are in strong...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-007-0017-8
更新日期:2007-08-01 00:00:00
abstract::Neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis are pressing health concerns in modern societies for which effective therapies are still lacking. Recent high-throughput genomic technologies have enabled genome-scale, multidimensional investigations to faci...
journal_title:Journal of genetics
pub_type: 杂志文章,评审
doi:
更新日期:2018-07-01 00:00:00
abstract::Neurodegenerative diseases constitute a large proportion of disorders in elderly, majority being sporadic in occurrence with ∼5-10% familial. A strong genetic component underlies the Mendelian forms but nongenetic factors together with genetic vulnerability contributes to the complex sporadic forms. Several gene disco...
journal_title:Journal of genetics
pub_type: 杂志文章,评审
doi:
更新日期:2018-07-01 00:00:00
abstract::ABC (ATP-binding cassette) transporters are members of a large superfamily of proteins that utilize ATP hydrolysis to translocate a wide range of substrates across biological membranes. In general, members of C subfamily (ABCC) are structurally characterized by an additional (N-terminal) transmembrane domain (TMD0). P...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-014-0327-6
更新日期:2014-04-01 00:00:00
abstract::Lhx9 is an LIM (named for the first three proteins in which the domain was found, Lin-11, Isl1 and Mec-3) homeodomain protein involved in development and differentiation of the gonad. In this study, we isolated the full-length Lhx9 and Lhx9α from Andrias davidianus, detected the tissue distribution and analysed the me...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-016-0685-3
更新日期:2016-09-01 00:00:00
abstract::IQSEC2 is an X-linked gene highly expressed at the excitatory synapses where it plays a crucial role in α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking and synaptic plasticity. To date, several males and females with severe to profound intellectual disability have been reported harbouring fra...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2020-01-01 00:00:00
abstract::Somatic embryos (SE) of habanero pepper (Capsicum chinense Jacq.) represent persistent deformations in the shoot apical meristem (SAM), which inhibits their capacity to form organs and subsequently plants. In dicotyledonous plants, SAM is formed in the apex, between cotyledons and it plays a central role in postembryo...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2019-09-01 00:00:00
abstract::It is not clear whether matK evolves under Darwinian selection. In this study, the gymnosperm Taxaceae, Cephalotaxaceae and Pinaceae were used to illustrate the physicochemical evolution, molecular adaptation and evolutionary dynamics of gene divergence in matKs. matK sequences were amplified from 27 Taxaceae and 12 C...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-010-0014-1
更新日期:2010-04-01 00:00:00
abstract::Panicle traits are the most important agronomic characters which directly relate to yield in rice. Panicle length (PL) being one of the major components of rice panicle structure is controlled by quantitative trait loci (QTLs). In our research, conducted at Research Farm of SKUAST-J, crosses of parental lines K343 and...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2019-06-01 00:00:00
abstract::Here, we describe a rapid, efficient and noncomplicated method for extracting poultry genomic DNA. This simple method obtains excellent qualities of molecular biology grade DNA in a matter of only about 15 min. A straightforward protocol is followed in this extraction procedure, in which, when the blood cells are plac...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2018-08-24 00:00:00
abstract::Equal transmission of the two alleles at a locus from a heterozygote parent to the offspring is rarely violated. Beside the differential embryonic mortality, nondisjunction and gene conversion that are rather irregular forms of transmission-ratio distortion (TRD), there are two major forms of departure from Mendelian ...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-008-0019-1
更新日期:2008-08-01 00:00:00
abstract::Molecular characterization of 23 cytogenetically confirmed XY females was attempted by screening coding regions of SRY and androgen receptor (AR) genes. Five of the index cases showed sequence variations in various exons of the AR gene: a deletion (n.1911delG) and substitutions n.1761G>A and n.1317C>T in exon 1; n.351...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-016-0716-0
更新日期:2016-12-01 00:00:00
abstract::We present evidence for coexistence of three different Drosophila species by rescheduling their life history traits in a natural population using the same resource, at the same time and same place. D. ananassae has faster larval development time (DT) and faster DT(egg-fly) than other two species thus utilizing the res...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/BF02715798
更新日期:2005-12-01 00:00:00
abstract::The Tetraodontidae (pufferfishes), is primarily a family of marine and estuarine fishes with a limited number of freshwater species. Freshwater invasions can be observed in South America, Southeast Asia and central Africa. In the present study, we have analysed the complete mitogenome of freshwater pufferfish, Carinot...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2019-12-01 00:00:00
abstract::Autosomal recessive primary microcephaly is a rare genetic disorder that is characterized by reduced head circumference and a varying degree of intellectual disability. Genetic studies on consanguineous families with primary microcephaly have identified 15 (MCPH) causative genes that include MCPH1, WDR62, CDK5RAP2, CA...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-017-0759-x
更新日期:2017-06-01 00:00:00
abstract::We have analysed the evolution of ERG28/C14orf1, a gene coding for a protein involved in sterol biosynthesis. While primary sequence of the protein is well conserved in all organisms able to synthesize sterols de novo, strong divergence is noticed in insects, which are cholesterol auxotrophs. In spite of this virtual ...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/BF02811414
更新日期:2001-04-01 00:00:00
abstract::Although it is known that hormones, growth factors and integrin promote hepatocyte proliferation in liver regeneration (LR) through ERK1/2 signalling pathway, reports about regulating processes of its intracellular paths in hepatocytes of LR are limited. This study aims at exploring which paths of ERK1/2 signalling pa...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2011-12-01 00:00:00
abstract::Long noncoding RNA (lncRNA) H19, a well-known oncogenic lncRNA, is overexpressed in various cancers. Several studies have investigated the association between polymorphisms in lncRNA H19 and the risk of various cancer types; however, the findings were inconsistent. In this study, we performed a meta-analysis to identi...
journal_title:Journal of genetics
pub_type: 杂志文章,meta分析,评审
doi:
更新日期:2019-09-01 00:00:00
abstract::Garcinia gummi-gutta (L.) Roxb. (Clusiaceae) is an endemic, semidomesticated, fruit-yielding tree species distributed in the Western Ghats of India and Sri Lanka. Various bioactive phytochemicals, such as garcinol, benzophenones and xanthones are isolated from G. gummi-gutta and have shown antibacterial, antiviral and...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-017-0756-0
更新日期:2017-06-01 00:00:00
abstract::SOX proteins constitute a large family of diverse, well-conserved transcription factors present in vertebrates and invertebrates, and also implicated in control of many developmental processes. Our objectives have been to identify Sox14 gene of goat (Capra hircus), cow (Bos taurus) and rat (Rattus norvegicus), and to ...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-009-0003-4
更新日期:2009-04-01 00:00:00
abstract::Genomics research in recent years, especially the human ENCODE project, have made great strides in understanding the genomic and epigenomic structure and organization of humans. These advances promise a new era of precision medicine, through a better understanding of the genomic correlates of human physiology and prom...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-013-0313-4
更新日期:2013-12-01 00:00:00
abstract::Lack of regulated expression and tissue specificity are the major drawbacks of plant and virus-derived constitutive promoters. A precise tissue or site-specific expression, facilitate regulated expression of proteins at the targeted time and site. Publically available microarray data on whitefly and aphid infested Ara...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2018-03-01 00:00:00
abstract::Association mapping is a powerful high-resolution mapping tool for complex traits. The objective of this study was to identify QTLs for partial resistance to Phytophthora sojae. In this study, we evaluated a total of 214 soybean accessions by the hypocotyl inoculation method, and 175 were susceptible. The 175 suscepti...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-014-0383-y
更新日期:2014-08-01 00:00:00
abstract::The development of the DNA theory of inheritance culminated in the publication of the molecular structure of DNA 60 years ago. This paper describes this development, beginning with the discovery of DNA as a chemical substance by Friedrich Miescher in 1869, followed by its basic chemical analysis and demonstration of i...
journal_title:Journal of genetics
pub_type: 历史文章,杂志文章,评审
doi:10.1007/s12041-014-0337-4
更新日期:2014-04-01 00:00:00
abstract::Proline and glutamine-rich wheat seed endosperm proteins are collectively referred to as prolamins. They are comprised of HMW-GSs, LMW-GSs and gliadins. HMW-GSs are major determinants of gluten elasticity and LMW-GSs considerably affect dough extensibility and maximum dough resistance. The inheritance of glutenin subu...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-010-0025-y
更新日期:2010-08-01 00:00:00
abstract::Allohexaploid wheat was derived from interspecific hybridization, followed by spontaneous chromosome doubling. Newly synthesized hexaploid wheat by crossing Triticum turgidum and Aegilops tauschii provides a classical model to understand the mechanisms of allohexaploidization in wheat. However, immediate chromosome le...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-016-0704-4
更新日期:2016-12-01 00:00:00