Abstract:
:All red/green colour vision defects described so far have been associated with gross rearrangements within the red/green opsin gene array (Xq28). We now describe a male with severe deuteranomaly without such a rearrangement. A substitution of a highly conserved cysteine by arginine at position 203 in the green opsins presumably accounted for his colour vision defect. Surprisingly, this mutation was fairly common (2%) in the population but apparently was not always expressed. In analogy with nonexpression of some 5'green-red hybrid genes in persons with normal colour vision, we suggest that failure of manifestation occurs when the mutant gene is located at a distal (3') position among several green opsin genes. This mutation might also predispose to certain X-linked retinal dystrophies.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Winderickx J,Sanocki E,Lindsey DT,Teller DY,Motulsky AG,Deeb SSdoi
10.1038/ng0792-251keywords:
subject
Has Abstractpub_date
1992-07-01 00:00:00pages
251-6issue
4eissn
1061-4036issn
1546-1718journal_volume
1pub_type
杂志文章相关文献
NATURE GENETICS文献大全abstract::Linkage disequilibrium mapping in isolated populations provides a powerful tool for fine structure localization of disease genes. Here, Luria and Delbrück's classical methods for analysing bacterial cultures are adapted to the study of human isolated founder populations in order to estimate (i) the recombination fract...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1192-204
更新日期:1992-11-01 00:00:00
abstract::Cold induces expression of a number of genes that encode proteins that enhance tolerance to freezing temperatures in plants. A cis-acting element responsive to cold and drought, the C-repeat/dehydration-responsive element (C/DRE), was identified in the Arabidopsis thaliana stress-inducible genes RD29A and COR15a and f...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1298
更新日期:2004-02-01 00:00:00
abstract::Plant imprinted genes show parent-of-origin expression in seed endosperm, but little is known about the nature of parental imprints in gametes before fertilization. We show here that single differentially methylated regions (DMRs) correlate with allele-specific expression of two maternally expressed genes in the seed ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1828
更新日期:2006-08-01 00:00:00
abstract::The morphogenesis of the brain and the differentiation of the neural structures are highly complex processes. A series of temporally and spatially regulated morphogenetic events gives rise to smaller areas that are phylogenetically, functionally and often morphogenetically different. Candidate genes for positional inf...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1096-218
更新日期:1996-10-01 00:00:00
abstract::By imposing a limit on the proliferative lifespan of most somatic cells, telomere erosion represents an innate mechanism for tumor suppression and may contribute to age-related disease. A detailed understanding of the pathways that link shortened telomeres to replicative senescence has been severely hindered by the in...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1084
更新日期:2003-02-01 00:00:00
abstract::We have carried out automated extraction of explicit and implicit biomedical knowledge from publicly available gene and text databases to create a gene-to-gene co-citation network for 13,712 named human genes by automated analysis of titles and abstracts in over 10 million MEDLINE records. The associations between gen...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0501-21
更新日期:2001-05-01 00:00:00
abstract::A polymorphic CAG repeat was identified in the human alpha 1A voltage-dependent calcium channel subunit. To test the hypothesis that expansion of this CAG repeat could be the cause of an inherited progressive ataxia, we genotyped a large number of unrelated controls and ataxia patients. Eight unrelated patients with l...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0197-62
更新日期:1997-01-01 00:00:00
abstract::White sponge nevus (WSN) is a benign autosomal dominant disorder which affects non-cornifying stratified squamous epithelia (MIM 193900) (ref. 1). Phenotypically it presents as white 'spongy' plaques (oral leukokeratoses), most commonly in the mouth but also reported in the esophagus and anogenital mucosa. Histologica...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1295-450
更新日期:1995-12-01 00:00:00
abstract::During evolution different genes evolve at unequal rates, reflecting the varying functional constraints on phenotype. An important contributor to this variation is genetic buffering, which reduces the potential detrimental effects of mutations. We studied whether gene duplication and redundant metabolic networks affec...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng945
更新日期:2002-09-01 00:00:00
abstract::We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically interpreted translocations and inversions. We confirm that the recently described phenomenon of 'chromothripsis' (massive chromosomal shattering and reorganization) is not...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2202
更新日期:2012-03-04 00:00:00
abstract::Charcot-Marie-Tooth disease (CMT1) is the most common form of inherited peripheral neuropathy. Although the disease is genetically heterogeneous, it has been demonstrated that the gene defect is the most frequent type (CMT1A) is the result of a partial duplication of band 17p11.2. Recent studies suggested that the per...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0692-171
更新日期:1992-06-01 00:00:00
abstract::The organophosphate cholinesterase inhibitor paraoxon is hydrolysed by serum paraoxonase/arylesterase. A genetic polymorphism of paraoxonase (PON) activity which determines high versus low paraoxon hydrolysis in human populations, may determine sensitivity to parathion poisoning. We demonstrate that arginine at positi...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0193-73
更新日期:1993-01-01 00:00:00
abstract::To compare lung adenocarcinoma (ADC) and lung squamous cell carcinoma (SqCC) and to identify new drivers of lung carcinogenesis, we examined the exome sequences and copy number profiles of 660 lung ADC and 484 lung SqCC tumor-normal pairs. Recurrent alterations in lung SqCCs were more similar to those of other squamou...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3564
更新日期:2016-06-01 00:00:00
abstract::1 alpha,25-Dihydroxyvitamin D3[1 alpha,25(OH)2D3], an active form of vitamin D, has roles in many biological phenomena such as calcium homeostasis and bone formation, which are thought to be mediated by the 1 alpha,25(OH)2D3 receptor (VDR), a member of the nuclear hormone receptor superfamily. However, the molecular b...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0897-391
更新日期:1997-08-01 00:00:00
abstract::We report duplication of the APP locus on chromosome 21 in five families with autosomal dominant early-onset Alzheimer disease (ADEOAD) and cerebral amyloid angiopathy (CAA). Among these families, the duplicated segments had a minimal size ranging from 0.58 to 6.37 Mb. Brains from individuals with APP duplication show...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1718
更新日期:2006-01-01 00:00:00
abstract::Hirschsprung disease (HSCR) is a frequent congenital disorder (1 in 5,000 newborns) of unknown origin characterized by the absence of parasympathetic intrinsic ganglion cells of the hindgut. Taking advantage of a proximal deletion of chromosome 10q (del 10q11.2-q21.2) in a patient with total colonic aganglionosis, and...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0893-346
更新日期:1993-08-01 00:00:00
abstract::The abundance of transposable elements and DNA repeat sequences in mammalian genomes raises the question of whether such insertions represent passive evolutionary baggage or may influence the expression of complex traits. We addressed this question in Drosophila melanogaster, in which the effects of single transposabl...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1823
更新日期:2006-07-01 00:00:00
abstract::Human Menkes disease and the murine Mottled phenotype are X-linked diseases that result from copper deficiency due to mutations in a copper-effluxing ATPase, designated ATP7A. Male mice with the Mottled-Brindled allele (Mo-brJ) accumulate copper in the intestine, fail to export copper to peripheral organs and die a fe...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0696-219
更新日期:1996-06-01 00:00:00
abstract::The diaphragm is an essential mammalian skeletal muscle, and defects in diaphragm development are the cause of congenital diaphragmatic hernias (CDHs), a common and often lethal birth defect. The diaphragm is derived from multiple embryonic sources, but how these give rise to the diaphragm is unknown, and, despite the...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3250
更新日期:2015-05-01 00:00:00
abstract::Head or ear blight, mainly caused by Fusarium species, can devastate almost all staple cereal crops (particularly wheat), resulting in great economic loss and imposing health threats on both human beings and livestock1-3. However, achievement in breeding for highly resistant cultivars is still not satisfactory. Here, ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-019-0426-7
更新日期:2019-07-01 00:00:00
abstract::A layered organization of cells is a common architectural feature of many neuronal formations. Mutations of the zebrafish gene nagie oko (nok) produce a severe disruption of retinal architecture, indicating a key role for this locus in neuronal patterning. We show that nok encodes a membrane-associated guanylate kinas...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng883
更新日期:2002-06-01 00:00:00
abstract::To shed light on the peopling of South Asia and the origins of the morphological adaptations found there, we analyzed whole-genome sequences from 10 Andamanese individuals and compared them with sequences for 60 individuals from mainland Indian populations with different ethnic histories and with publicly available da...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3621
更新日期:2016-09-01 00:00:00
abstract::Opisthorchis viverrini-related cholangiocarcinoma (CCA), a fatal bile duct cancer, is a major public health concern in areas endemic for this parasite. We report here whole-exome sequencing of eight O. viverrini-related tumors and matched normal tissue. We identified and validated 206 somatic mutations in 187 genes us...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2273
更新日期:2012-05-06 00:00:00
abstract::Metastasis is the leading cause of death in people with lung cancer, yet the molecular effectors underlying tumor dissemination remain poorly defined. Through the development of an in vivo spontaneous lung cancer metastasis model, we show that the developmentally regulated transcriptional repressor Capicua (CIC) suppr...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3728
更新日期:2017-01-01 00:00:00
abstract::The three-dimensional organization of the genome has an important role in orchestrating gene expression, but its regulation is poorly understood. Now, a new study uncovers a major role for Polycomb components of the PRC1 complex in organizing physical networks of genes that are co-repressed to maintain pluripotency. ...
journal_title:Nature genetics
pub_type: 评论,新闻
doi:10.1038/ng.3411
更新日期:2015-10-01 00:00:00
abstract:: ...
journal_title:Nature genetics
pub_type: 评论,杂志文章
doi:10.1038/s41588-018-0242-5
更新日期:2018-11-01 00:00:00
abstract::Pelger-Huët anomaly (PHA; OMIM *169400) is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes. Affected individuals show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as v...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng925
更新日期:2002-08-01 00:00:00
abstract::Genetic linkage studies with chromosome 21 DNA markers and mutation analysis of the beta-amyloid protein precursor gene located in 21q21.3 have indicated that early-onset Alzheimer's disease (EOAD) is a heterogeneous disorder for which at least one other chromosomal locus exists. We examined two extended histopatholog...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1292-335
更新日期:1992-12-01 00:00:00
abstract::Long noncoding RNAs (lncRNAs) are prevalent genes with frequently precise regulation but mostly unknown functions. Here we demonstrate that lncRNAs guide the organismal DNA damage response. DNA damage activated transcription of the DINO (Damage Induced Noncoding) lncRNA via p53. DINO was required for p53-dependent gen...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3673
更新日期:2016-11-01 00:00:00
abstract::The CRISPR-Cas9 system enables global screens of gene function with high sensitivity and specificity, but off-target effects have been reported for CRISPR guide RNAs targeting genes that are amplified at high copy number. A new study describes a computational approach to correct for this copy number effect, increasing...
journal_title:Nature genetics
pub_type: 评论,杂志文章
doi:10.1038/ng.3994
更新日期:2017-11-29 00:00:00