Abstract：
:The prevalence of genetic variants associated to cutaneous melanoma (CM) has never been determined within Cypriot melanomas. This study evaluates the frequency of variants in cyclin-dependent kinase inhibitor 2A (CDKN2A) and melanocortin-1 receptor (MC1R) in 32 patients diagnosed with CM. Other characteristics and risk factors were also assessed. CDKN2A p.Ala148Thr was detected in three of 32 patients, while the control group revealed no variations within CDKN2A. MC1R screening in 32 patients revealed the following variations: p.Val60Leu in 11 patients, p.Arg142His in four patients, p.Thr314Thr in one patient, p.Arg160Trp in one patient, p.Val92Met/p.Thr314Thr in one patient and p.Val92Met/p.Arg142His/p.Thr314Thr in one patient. The control group revealed only p.Val60Leu (in 10 of 45 individuals), which is frequently found in general populations. Two unrelated patients carried CDKN2A p.Ala148Thr in combination with MC1R p.Arg142His, suggesting digenic inheritance that may provide evidence of different gene variants acting synergistically to contribute for CM development. This study confirms the presence of CDKN2A and MC1R variants among Cypriot melanomas and supports existing evidence of a role for these variants in susceptibility to melanoma.
journal_name
J Genetjournal_title
Journal of geneticsauthors
Koulermou G,Shammas C,Vassiliou A,Kyriakides TC,Costi C,Neocleous V,Phylactou LA,Pantelidou Mdoi
10.1007/s12041-017-0742-6subject
Has Abstractpub_date
2017-03-01 00:00:00pages
155-160issue
1eissn
0022-1333issn
0973-7731journal_volume
96pub_type
杂志文章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：: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：: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：: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：:Single-nucleotide polymorphisms (SNPs), microsatellites and copy number variation (CNV) were studied on the Y chromosome to understand the paternal origin and phylogenetic relationships for resource protection, rational development and utilization of the domestic Bactrian camel in China. Our sample set consisted of 94...
journal_title：Journal of genetics
pub_type： 杂志文章
doi：
更新日期：2018-03-01 00:00:00
abstract：:Mucuna pruriens is a well-recognized agricultural and horticultural crop with important medicinal use. However, antinutritional factors in seed and adverse morphological characters have negatively affected its cultivation. To elucidate the genetic control of agronomic traits, an intraspecific genetic linkage map of In...
journal_title：Journal of genetics
pub_type： 杂志文章
doi：10.1007/s12041-015-0602-1
更新日期：2016-03-01 00:00:00
abstract：:A traditional genomewide association study (GWAS) detects genotype-phenotype associations by the vast number of genotyped individuals. This method requires large-scale samples and considerable sequencing costs. Extreme phenotypic sampling proposes make GWAS more cost-efficient and are applied more widely. With extreme...
journal_title：Journal of genetics
pub_type： 杂志文章
doi：
更新日期：2018-09-01 00:00:00
abstract：:Angiogenesis is the formation of new blood vessels from pre-existing vasculature. Pathologic angiogenesis in the eye can lead to severe visual impairment. In our review, we discuss the roles of both pro-angiogenic and anti-angiogenic molecular players in corneal angiogenesis, proliferative diabetic retinopathy, exudat...
journal_title：Journal of genetics
pub_type： 杂志文章,评审
doi：10.1007/s12041-009-0068-0
更新日期：2009-12-01 00:00:00
abstract：:The ad-8 gene of Neurospora crassa, in addition to being used for the study of purine biology, has been extensively studied as a model for gene structure, mutagenesis and intralocus recombination. Because of this there is an extensive collection of well-characterized N. crassa ad-8 mutants in the Fungal Genetics Stock...
journal_title：Journal of genetics
pub_type： 杂志文章
doi：10.1007/s12041-012-0175-1
更新日期：2012-08-01 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：:We describe a newborn female with a de novo duplication of chromosomes 2q31.2 and 2q37.3, and a de novo monosomy 9p24.3. The clinical findings of this patient include congenital heart defects, dysmorphic facial features, hypotonia, feeding difficulties and microcephaly. Ultrasonographic prenatal findings were negative...
journal_title：Journal of genetics
pub_type： 杂志文章
doi：
更新日期：2018-03-01 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：:Rattans, the spiny climbing palms of Arecaceae (Palmae) family exhibit high endemism to the biodiversity hot spots in India. Of the five rattan genera, Calamus is the only genus found in peninsular India with 15 of 21 species, endemic to the Western Ghats. The extensive utilization of rattans owing to their strength, ...
journal_title：Journal of genetics
pub_type： 杂志文章
doi：
更新日期：2019-11-01 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：: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：:Insulin-like growth factor receptor (IGF-1R) deficiency is a rare form of short stature, and is difficult to clinically diagnose. Targeted next-generation sequencing (NGS) allows for the rapid and inexpensive assessment of short stature. We identified mutations in the pedigree of a Chinese boy with severe short statur...
journal_title：Journal of genetics
pub_type： 杂志文章
doi：
更新日期：2019-03-01 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：:It is a key challenge to conduct reproducibility in genetic research, especially association studies in obesity. While susceptibility of a single-nucleotide polymorphism (SNP), rs9939609, in the fat mass and obesity-associated (FTO) gene to obesity has been reported in various populations, data from Asians is less con...
journal_title：Journal of genetics
pub_type： 杂志文章
doi：10.1007/s12041-016-0671-9
更新日期：2016-09-01 00:00:00
abstract：:The evolutionary dynamics of the tetra-nucleotide microsatellite locus Spl-106 were investigated at the repeat and flanking sequences in 137 individuals of 15 Acipenseriform species, giving 93 homologous sequences, which were detected in 11 out of 15 species. Twenty-three haplotypes of flanking sequences and three dis...
journal_title：Journal of genetics
pub_type： 杂志文章
doi：10.1007/s12041-011-0055-0
更新日期：2011-08-01 00:00:00
abstract：:Insulin-like growth factor 1 (IGF1) plays an important role in growth, reproduction, foetal development and cell proliferation. The present study was conducted to clone and sequence the full-length coding sequence of the caprine IGF1 gene from Attappady Black and Malabari breeds, two indigenous goat breeds of south In...
journal_title：Journal of genetics
pub_type： 杂志文章
doi：10.1007/s12041-017-0762-2
更新日期：2017-06-01 00:00:00
abstract：:Both cowpea and yard-long bean belong to Vigna unguiculata ssp. unguiculata but have diverged through human induced evolution in sub-Saharan Africa and Asia, respectively. To map the quantitative trait loci (QTLs) for yield associated traits and derive new lines that may combine the attributes of both types, we develo...
journal_title：Journal of genetics
pub_type： 杂志文章
doi：
更新日期：2020-01-01 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：:We have investigated nucleotide polymorphism at the beta-esterase gene cluster including the Est-6 gene and psiEst-6 putative pseudogene in four samples of Drosophila melanogaster derived from natural populations of southern Africa (Zimbabwe), Europe (Spain), North America (USA: California), and South America (Venezue...
journal_title：Journal of genetics
pub_type： 杂志文章
doi：10.1007/BF02715813
更新日期：2003-12-01 00:00:00
abstract：:Cupressus gigantea and C. torulosa are ecologically and economically important endemic species of the conifer family Cupressaceae on the Qinghai-Tibetan plateau. C. gigantea was previously classified as a subspecies of C. torulosa because of their similar morphological characteristics and close distribution. In this s...
journal_title：Journal of genetics
pub_type： 杂志文章
doi：
更新日期：2019-03-01 00:00:00
abstract：:Negative supercoiling stimulates transcription of many genes. In contrast, transcription of the genes coding for DNA gyrase is subject to a novel mechanism of autoregulation, wherein relaxation of the template DNA stimulates their transcription. Since DNA gyrase is the sole supercoiling activity in the eubacterial cel...
journal_title：Journal of genetics
pub_type： 杂志文章
doi：10.1007/BF02717907
更新日期：2001-12-01 00:00:00
abstract：:Eucalyptus is an important short rotation pulpy woody plant, grown widely in the tropics. Recently, many genomic programmes are underway leading to the accumulation of voluminous genomic and expressed sequence tag sequences in public databases. These sequences can be utilized for analysis of simple sequence repeats (S...
journal_title：Journal of genetics
pub_type： 杂志文章
doi：10.1007/s12041-008-0003-9
更新日期：2008-04-01 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：: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：: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：:In this study, primer pairs of 15 microsatellite markers associated with sex determination of tilapia were selected and amplified in Wami tilapia, Oreochromis urolepis hornorum. While one marker, UNH168, on linkage group 3 (LG3) was associated (P <0.001) with the phenotypic sex in the experimental population, nine gen...
journal_title：Journal of genetics
pub_type： 杂志文章
doi：10.1007/s12041-016-0653-y
更新日期：2016-06-01 00:00:00
