Abstract:
:Hearing impairment is clinically and genetically heterogeneous. There are >400 disorders in which hearing impairment is a characteristic of the syndrome, and family studies demonstrate that there are at least 30 autosomal loci for nonsyndromic hearing impairment. The genes that have been identified encode diaphanous (HDIA1), alpha-tectorin (TECTA), the transcription factor POU4F3, connexin 26 (GJB2), and two unconventional myosins (MYO7A and MYO15), and four novel proteins (PDS, COCH, DFNA5, DFNB9). The same clinical phenotype in hearing-impaired individuals, even those within the same family, can result from mutations in different genes. Conversely, mutations in the same gene can result in a variety of clinical phenotypes with different modes of inheritance. For example, mutations in the gene encoding MYO7A cause Usher syndrome type IB, autosomal-recessive nonsyndromic hearing impairment (DFNB2), and autosomal-dominant nonsyndromic hearing impairment (DFNA11). Additionally, the mouse ortholog of the MYO7A gene is the shaker-1 gene. Mouse models such as shaker-1 have facilitated the identification of genes that cause hearing impairment in humans. The availability of high-resolution maps of the human and mouse genomes and new technologies for gene identification are advancing molecular understanding of hearing impairment and the complex mechanisms of the auditory system.
journal_name
Genome Resjournal_title
Genome researchauthors
Keats BJ,Berlin CIsubject
Has Abstractpub_date
1999-01-01 00:00:00pages
7-16issue
1eissn
1088-9051issn
1549-5469journal_volume
9pub_type
历史文章,杂志文章,评审相关文献
GENOME RESEARCH文献大全abstract::We find that the degree of impairment of protein function by missense variants is predictable by comparative sequence analysis alone. The applicable range of impairment is not confined to binary predictions that distinguish normal from deleterious variants, but extends continuously from mild to severe effects. The acc...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.3804205
更新日期:2005-07-01 00:00:00
abstract::Since complete redundancy between extant duplicates (paralogs) is evolutionarily unfavorable, some degree of functional congruency is eventually lost. However, in budding yeast, experimental evidence collected for duplicated metabolic enzymes and in global physical interaction surveys had suggested widespread function...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.076174.108
更新日期:2008-07-01 00:00:00
abstract::In the attempt to understand human variation and the genetic basis of complex disease, a tremendous number of single nucleotide polymorphisms (SNPs) have been discovered and deposited into NCBI's dbSNP public database. More than 2.7 million SNPs in the database have genotype information. This data provides an invaluab...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.4297805
更新日期:2005-11-01 00:00:00
abstract::Molecular evolution studies are usually based on the analysis of individual genes and thus reflect only small-range variations in genomic sequences. A complementary approach is to study the evolutionary history of rearrangements in entire genomes based on the analysis of gene orders. The progress in whole genome seque...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.3002305
更新日期:2005-01-01 00:00:00
abstract::Population genetics has evolved from a theory-driven field with little empirical data into a data-driven discipline in which genome-scale data sets test the limits of available models and computational analysis methods. In humans and a few model organisms, analyses of whole-genome sequence polymorphism data are curren...
journal_title:Genome research
pub_type: 杂志文章,评审
doi:10.1101/gr.079509.108
更新日期:2010-03-01 00:00:00
abstract::In this study we quantify the features of meiotic recombination on the long arm of human chromosome 21. We constructed a 67. 3-centimorgan (cM) high-resolution, comprehensive, and accurate genetic linkage map of chromosome 21q using 187 highly polymorphic markers covering almost the entire long arm; 46 loci, consistin...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.138100
更新日期:2000-09-01 00:00:00
abstract::How pathogens evolve their virulence to humans in nature is a scientific issue of great medical and biological importance. Shiga toxin (Stx)-producing Escherichia coli (STEC) and enteropathogenic E. coli (EPEC) are the major foodborne pathogens that can cause hemolytic uremic syndrome and infantile diarrhea, respectiv...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.249268.119
更新日期:2019-09-01 00:00:00
abstract::Recent computational and experimental work suggests that functional modules underlie much of cellular physiology and are a useful unit of cellular organization from the perspective of systems biology. Because interactions among modules can give rise to higher-level properties that are essential to cellular function, a...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.3847105
更新日期:2005-09-01 00:00:00
abstract::Microsatellites are abundant in vertebrate genomes, but their sequence representation and length distributions vary greatly within each family of repeats (e.g., tetranucleotides). Biophysical studies of 82 synthetic single-stranded oligonucleotides comprising all tetra- and trinucleotide repeats revealed an inverse co...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.078303.108
更新日期:2008-10-01 00:00:00
abstract::In vivo analyses of the occurrence, subcellular localization, and dynamics of protein-protein interactions (PPIs) are important issues in functional proteomic studies. The bimolecular fluorescence complementation (BiFC) assay has many advantages in that it provides a reliable way to detect PPIs in living cells with mi...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.231860.117
更新日期:2019-01-01 00:00:00
abstract::Paternal X chromosome inactivation occurs in rodent extraembryonic membranes and in all tissues of marsupials. Methylation of CpG islands occurs on the inactive X in eutherians and is considered to be a stabilizing mechanism. The only previous study of a marsupial X-linked CpG island was of the G6PD gene of the Virgin...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.6.2.114
更新日期:1996-02-01 00:00:00
abstract::The expression of most genes is regulated by multiple transcription factors. The interactions between transcription factors produce complex patterns of gene expression that are not always obvious from the arrangement of cis-regulatory elements in a promoter. One critical element of promoters is the TATA box, the docki...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.106732.110
更新日期:2010-10-01 00:00:00
abstract::Understanding the consequences of regulatory variation in the human genome remains a major challenge, with important implications for understanding gene regulation and interpreting the many disease-risk variants that fall outside of protein-coding regions. Here, we provide a direct window into the regulatory consequen...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.155192.113
更新日期:2014-01-01 00:00:00
abstract::Retroposed copies (RPCs) of genes are functional (intronless paralogs) or nonfunctional (processed pseudogenes) copies derived from mRNA through a process of retrotransposition. Previous studies found that gene families involved in mRNA translation or nuclear function were more likely to have large numbers of RPCs. He...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.893803
更新日期:2003-05-01 00:00:00
abstract::Pigmentation of skin, eye, and hair reflects some of the most evident common phenotypes in humans. Several candidate genes for human pigmentation are identified. The SNP rs12913832 has strong statistical association with human pigmentation. It is located within an intron of the nonpigment gene HERC2, 21 kb upstream of...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.128652.111
更新日期:2012-03-01 00:00:00
abstract::The in vitro cloning of DNA molecules traditionally uses PCR amplification or site-specific restriction endonucleases to generate linear DNA inserts with defined termini and requires DNA ligase to covalently join those inserts to vectors with the corresponding ends. We have used the properties of Vaccinia DNA topoisom...
journal_title:Genome research
pub_type: 杂志文章
doi:
更新日期:1999-04-01 00:00:00
abstract::The genetic positions of the five Arabidopsis thaliana centromere regions have been identified by mapping size polymorphisms in the centromeric 180-bp repeat arrays. Structural and genetic analysis indicates that 180-bp repeat arrays of up to 1000 kb are found in the centromere region of each chromosome. The genetic b...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.7.11.1045
更新日期:1997-11-01 00:00:00
abstract::To promote the clinical and epidemiological studies that improve our understanding of human genetic susceptibility to environmental exposure, the Environmental Genome Project (EGP) has scanned 213 environmental response genes involved in DNA repair, cell cycle regulation, apoptosis, and metabolism for single nucleotid...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.2730004
更新日期:2004-10-01 00:00:00
abstract::All individuals in a finite population are related if traced back long enough and will, therefore, share regions of their genomes identical by descent (IBD). Detection of such regions has several important applications-from answering questions about human evolution to locating regions in the human genome containing di...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.115360.110
更新日期:2011-07-01 00:00:00
abstract::Transcription factors (TFs) are key mediators that propagate extracellular and intracellular signals through to changes in gene expression profiles. However, the rules by which promoters decode the amount of active TF into target gene expression are not well understood. To determine the mapping between promoter DNA se...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.212316.116
更新日期:2017-01-01 00:00:00
abstract::A genome-wide search for multiple loci influencing salt-loaded systolic blood pressure (NaSBP) variation among 188 F2 progeny from a cross between the Brown-Norway and spontaneously hypertensive rat strains was pursued in an effort to gain insight into the polygenic basis of blood pressure regulation. The results sugg...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.5.2.164
更新日期:1995-09-01 00:00:00
abstract::We herein study genetic recombination in three cattle populations from France, New Zealand, and the Netherlands. We identify 2,395,177 crossover (CO) events in 94,516 male gametes, and 579,996 CO events in 25,332 female gametes. The average number of COs was found to be larger in males (23.3) than in females (21.4). T...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.204214.116
更新日期:2016-10-01 00:00:00
abstract::Long interspersed nuclear element-1 (LINE-1 or L1) retrotransposons are normally suppressed in somatic tissues mainly due to DNA methylation and antiviral defense. However, the mechanism to suppress L1s may be disrupted in cancers, thus allowing L1s to act as insertional mutagens and cause genomic rearrangement and in...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.231837.117
更新日期:2018-08-01 00:00:00
abstract::We have developed the CADLIVE (Computer-Aided Design of LIVing systEms) Simulator that provided a rule-based automatic way to convert biochemical network maps into dynamic models, which enables simulating their dynamics without going through all of the reactions down to the details of exact kinetic parameters. The sim...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.3463705
更新日期:2005-04-01 00:00:00
abstract::We report the construction of a dense linkage map of the rat genome integrating 767 simple sequence length polymorphism markers, combined over three crosses with high rates of polymorphism. F2 populations from WKY x S (n = 159), BN x S (n = 91), and BN x GK (n = 139) were selected and genotyped for combinations of mic...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.7.5.434
更新日期:1997-05-01 00:00:00
abstract::Rhesus macaque is an Old World monkey that shared a common ancestor with human ∼25 Myr ago and is an important animal model for human disease studies. A deep understanding of its genetics is therefore required for both biomedical and evolutionary studies. Among structural variants, inversions represent a driving force...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.265322.120
更新日期:2020-11-01 00:00:00
abstract::Natural killer (NK) cells contribute to the essential functions of innate immunity and reproduction. Various genes encode NK cell receptors that recognize the major histocompatibility complex (MHC) Class I molecules expressed by other cells. For primate NK cells, the killer-cell immunoglobulin-like receptors (KIR) are...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.085738.108
更新日期:2009-05-01 00:00:00
abstract::To elucidate the role of exon shuffling in shaping the complexity of the human genome/proteome, we have systematically analyzed intron phase distributions in the coding sequence of human protein domains. We found that introns at the boundaries of domains show high excess of symmetrical phase combinations (i.e., 0-0, 1...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.520702
更新日期:2002-11-01 00:00:00
abstract::The functional classification of genes on a genome-wide scale is now in its infancy, and we make a first attempt to assess existing methods and identify sources of error. To this end, we compared two independent efforts for associating proteins with functions, one implemented by FlyBase and the other by PANTHER at Cel...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.771603
更新日期:2003-09-01 00:00:00
abstract::Aging is a pleiotropic process affecting many aspects of mammalian physiology. Mammals are composed of distinct cell type identities and tissue environments, but the influence of these cell identities and environments on the trajectory of aging in individual cells remains unclear. Here, we performed single-cell RNA-se...
journal_title:Genome research
pub_type: 杂志文章
doi:10.1101/gr.253880.119
更新日期:2019-12-01 00:00:00