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, CASC5, ASPM, CENPJ, STIL, CEP135, CEP152, ZNF335, PHC1, CDK6, CENPE, SASS6 MFSD2A ANKLE2 and CIT (Khan et al. 2014; Yamamoto et al. 2014; Alakbarzade et al. 2015;Morris-Rosendahl and Kaindl 2015; Basit et al. 2016). Physiologically, most of these MCPH proteins are involved in cell cycle and its regulation. In the present clinical genetic study, we have present two consanguineous Pakistani families segregating primary microcephaly and intellectual disability. These families were ascertained from the Saraiki ethnic part of Khyber-Pakhtunkhwa province in Pakistan. Whole exome sequencing in one family revealed a novel 1-bp deletion NM_018136.4: c.10013delA (p.Asp3338Valfs*2), while the other family showed a previously reported nonsense mutation NM_018136.4: c.9730C>T (rs199422195 (p.Arg3244*)) in ASPM gene. The novel frame-shift mutation (p.Asp3338Valfs*2) in ASPM presumably truncates the protein synthesis that results in loss of armadillo-type fold domain.
journal_name
J Genetjournal_title
Journal of geneticsauthors
Khan MA,Windpassinger C,Ali MZ,Zubair M,Gul H,Abbas S,Khan S,Badar M,Mohammad RM,Nawaz Zdoi
10.1007/s12041-017-0759-xsubject
Has Abstractpub_date
2017-06-01 00:00:00pages
383-387issue
2eissn
0022-1333issn
0973-7731journal_volume
96pub_type
杂志文章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::Genetic correlations of nutrient quality traits including lysine, methionine, leucine, isoleucine, phenylalanine, valine and threonine contents in rapeseed meal were analysed by the genetic model for quantitative traits of diploid plants using a diallel design with nine parents of Brassica napus L. These results indic...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-011-0040-7
更新日期:2011-04-01 00:00:00
abstract::The deep divergence of mammalian groups 166 and 190 million years ago (MYA) provide genetic variation to explore the evolution of DNA sequence, gene arrangement and regulation of gene expression in mammals. With encouragement from the founder of the field, Mary Lyon, techniques in cytogenetics and molecular biology we...
journal_title:Journal of genetics
pub_type: 杂志文章,评审
doi:10.1007/s12041-015-0572-3
更新日期:2015-12-01 00:00:00
abstract::Genotypes of 103 short tandem repeat (STR) markers distributed at an average of 40 cM intervals throughout the genome were determined for 40 individuals from the village of BirEl Hfai (BEH). This village of approximately 31,000 individuals is localized in the south-west of Tunisia. The allele frequency distributions i...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/BF02715830
更新日期:2004-04-01 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::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::Glutathione transferases (GSTs; EC 2.5.1.18) play important roles in stress tolerance and metabolic detoxification in plants.In higher plants, studies on GSTs have focussed largely on agricultural plants. There is restricted information about molecular characterization of GSTs in gymnosperms. To date, only tau class G...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-015-0538-5
更新日期:2015-09-01 00:00:00
abstract::To investigate the role of miR-27b in sheep skeletal muscle development, here we first cloned the sequence of sheep pre-miR-27b, then further investigated its expression pattern in sheep skeletal muscle in vivo, the relationship of miR-27b expression and sheep skeletal muscle satellite cell proliferation and different...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2018-12-01 00:00:00
abstract::In Catharanthus roseus, three morphological cum salt-tolerant chemically induced mutants of Mendelian inheritance and their wild-type parent cv Nirmal were characterized for overall cytosine methylation at DNA repeats, expression of 119 protein coding and seven miRNA-coding genes and 50 quantitative traits. The mutant...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-013-0271-x
更新日期:2013-12-01 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::Male fertility in farm animals is considered as an important economic trait. The phenomenon of spermatogenesis plays a dynamic functional role in determining the viability of sperm and thereby can impact on fertility-driven complications. The process of spermatogenesis is controlled by numerous molecular factors and r...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2020-01-01 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::The six basic generations (two parents, F1, F2 and backcrosses) of 14 crosses developed from nine parents differing in fruits node-1 and fruit orientation were evaluated to decipher the genetics of three quantitative traits (average fruit weight, fruits plant-1 and green fruit yield plant-1) during the rainly season o...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2019-09-01 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
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::Oil palm (Elaeis guineensis Jacq.) is a perennial vegetable and a high oil-yielding crop (4-6 t/ha). There is a large scope for increasing the oil yield by selecting elite planting material for breeding programme in germplasm evaluation, characterization and utilization. In the present study, a diverse range of 150 oi...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2020-01-01 00:00:00
abstract::miRNAs are important regulators of plant gene expression. There are few studies on the regulation of miRNAs in Lonicera edulis. We used high-throughput sequencing technology to analyse miRNAs in L. edulis, aiming to identify miRNAs and elucidate their function in L. edulis. In the present study, we employed the high-t...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2020-01-01 00:00:00
abstract::Some members of hairy/Enhancer-of-split-related gene (HES) family have important effects on axial mesoderm segmentation and the establishment and maintenance of the somite fringe. In fishes, the her6 gene, a member of the HES family, is the homologue of hes1 in mammals and chicken. In this study, the her6 gene and its...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/BF02935327
更新日期:2006-12-01 00:00:00
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 ...
journal_title:Journal of genetics
pub_type: 杂志文章,评审
doi:10.1007/s12041-008-0074-7
更新日期:2008-12-01 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::Multiple experimental evolution studies on Drosophila melanogaster in the 1980s and 1990s indicated that enhanced competitive ability evolved primarily through increased larval tolerance to nitrogenous wastes and increased larval feeding and foraging rate, at the cost of efficiency of food conversion to biomass, and t...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-016-0656-8
更新日期:2016-09-01 00:00:00
abstract::The application of DNA intercalator 9-aminoacridine allowed us to increase the resolution of chromosome C-banding and DAPI-banding patterns and to investigate chromosomal polymorphism in karyotypes of seven spring and six winter rape varieties. It was shown that the pericentromeric and intercalary C-bands of most of t...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-014-0351-6
更新日期:2014-04-01 00:00:00
abstract::Primary osteoarthritis (OA) is a leading cause of disability in developed countries. Currently no satisfactory treatment to stop disease progression exists. Recent studies suggest that activation of the transcription factor peroxisome proliferator-activated receptor gamma (PPARγ) is an interesting therapeutic target f...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:10.1007/s12041-014-0444-2
更新日期:2014-12-01 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 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::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::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::Nonrandom segregation ratios of alleles 'segregation distortion' can have a striking impact on transmission genetics, and with widespread availability of genetic markers has been shown to be a frequent phenomenon. To investigate the possible effect of genetic interaction on segregation distortion and genetic map const...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2018-12-01 00:00:00
abstract::Chronic periodontitis (CP) is the common form of inflammatory oral disease. Matrix metalloproteinases (MMPs) play a pivotal role in the progression of CP by degrading gingival tissue and its remodelling. Here, we conducted a case-control study to investigate a possible association of single-nucleotide polymorphism of ...
journal_title:Journal of genetics
pub_type: 杂志文章
doi:
更新日期:2019-03-01 00:00:00