当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

Abstract：

:Autosomal recessive Alport syndrome is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities and associated with mutations in either the COL4A3 or the COL4A4 gene, which encode the alpha3 and alpha4 type IV collagen chains, respectively. To date, mutation screening in the two genes has been hampered by the lack of genomic structure information. We report here the complete characterization of the 48 exons of the COL4A4 gene, a comprehensive gene screen, and the subsequent detection of 10 novel mutations in eight patients diagnosed with autosomal recessive Alport syndrome. Furthermore, we identified a glycine to alanine substitution in the collagenous domain that is apparently silent in the heterozygous carriers, in 11.5% of all control individuals, and in one control individual homozygous for this glycine substitution. There has been no previous finding of a glycine substitution that is not associated with any obvious phenotype in homozygous individuals.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Boye E,Mollet G,Forestier L,Cohen-Solal L,Heidet L,Cochat P,Grünfeld JP,Palcoux JB,Gubler MC,Antignac C

doi

10.1086/302106

subject

Has Abstract

pub_date

1998-11-01 00:00:00

pages

1329-40

issue

5

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)61564-X

journal_volume

63

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies.

    abstract：:We report the development and validation of experimental methods, study designs, and analysis software for pooling-based genomewide association (GWA) studies that use high-throughput single-nucleotide-polymorphism (SNP) genotyping microarrays. We first describe a theoretical framework for establishing the effectivenes...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/510686

    authors： Pearson JV,Huentelman MJ,Halperin RF,Tembe WD,Melquist S,Homer N,Brun M,Szelinger S,Coon KD,Zismann VL,Webster JA,Beach T,Sando SB,Aasly JO,Heun R,Jessen F,Kolsch H,Tsolaki M,Daniilidou M,Reiman EM,Papassotiropoul

    更新日期：2007-01-01 00:00:00

  • Privacy Risks from Genomic Data-Sharing Beacons.

    abstract：:The human genetics community needs robust protocols that enable secure sharing of genomic data from participants in genetic research. Beacons are web servers that answer allele-presence queries--such as "Do you have a genome that has a specific nucleotide (e.g., A) at a specific genomic position (e.g., position 11,272...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2015.09.010

    authors： Shringarpure SS,Bustamante CD

    更新日期：2015-11-05 00:00:00

  • Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.

    abstract：:Activating mutations in the genes for fibroblast growth factor receptors 1-3 (FGFR1-3) are responsible for a diverse group of skeletal disorders. In general, mutations in FGFR1 and FGFR2 cause the majority of syndromes involving craniosynostosis, whereas the dwarfing syndromes are largely associated with FGFR3 mutatio...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/427956

    authors： White KE,Cabral JM,Davis SI,Fishburn T,Evans WE,Ichikawa S,Fields J,Yu X,Shaw NJ,McLellan NJ,McKeown C,Fitzpatrick D,Yu K,Ornitz DM,Econs MJ

    更新日期：2005-02-01 00:00:00

  • Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

    abstract：:Allan-Herndon-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in 1990). Six large families with the syndrome have been identified, and linkage studies have placed the gene locus in Xq13.2. Mutati...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/431313

    authors： Schwartz CE,May MM,Carpenter NJ,Rogers RC,Martin J,Bialer MG,Ward J,Sanabria J,Marsa S,Lewis JA,Echeverri R,Lubs HA,Voeller K,Simensen RJ,Stevenson RE

    更新日期：2005-07-01 00:00:00

  • Partial trisomy 14 (q23 leads to qter) via segregation of a 14/X translocation.

    abstract：:An infant with delayed development and multiple congenital anomalies was found to possess a duplication of 14q23 leads to qter. This imbalance arose through segregation of a maternal 14/X translocation, observed in only 28% of the mother's cells. Although the X-chromosome-derived portion of the translocation was late ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Cohen MM,Charrow J,Balkin NE,Harris CJ

    更新日期：1983-07-01 00:00:00

  • Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.

    abstract：:Hypotrichosis simplex (HS) comprises a group of hereditary isolated alopecias that are characterized by a diffuse and progressive loss of hair starting in childhood and shows a wide phenotypic variability. We mapped an autosomal-dominant form of HS to chromosome 1q31.3-1q41 in a Spanish family. By direct sequencing, w...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.10.022

    authors： Pasternack SM,Refke M,Paknia E,Hennies HC,Franz T,Schäfer N,Fryer A,van Steensel M,Sweeney E,Just M,Grimm C,Kruse R,Ferrándiz C,Nöthen MM,Fischer U,Betz RC

    更新日期：2013-01-10 00:00:00

  • Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

    abstract：:Deletions of the distal short arm of chromosome 1 (1p36) represent a common, newly delineated deletion syndrome, characterized by moderate to severe psychomotor retardation, seizures, growth delay, and dysmorphic features. Previous cytogenetic underascertainment of this chromosomal deletion has made it difficult to ch...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/515520

    authors： Shapira SK,McCaskill C,Northrup H,Spikes AS,Elder FF,Sutton VR,Korenberg JR,Greenberg F,Shaffer LG

    更新日期：1997-09-01 00:00:00

  • Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility.

    abstract：:Fertilization is a fundamental process of development and is a prerequisite for successful human reproduction. In mice, although several receptor proteins have been shown to play important roles in the process of fertilization, only three genes have been shown to cause fertilization failure and infertility when delete...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.02.015

    authors： Sang Q,Li B,Kuang Y,Wang X,Zhang Z,Chen B,Wu L,Lyu Q,Fu Y,Yan Z,Mao X,Xu Y,Mu J,Li Q,Jin L,He L,Wang L

    更新日期：2018-04-05 00:00:00

  • Linkage of low-density lipoprotein size to the lipoprotein lipase gene in heterozygous lipoprotein lipase deficiency.

    abstract：:Small low-density lipoprotein (LDL) particles are a genetically influenced coronary disease risk factor. Lipoprotein lipase (LpL) is a rate-limiting enzyme in the formation of LDL particles. The current study examined genetic linkage of LDL particle size to the LpL gene in five families with structural mutations in th...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302234

    authors： Hokanson JE,Brunzell JD,Jarvik GP,Wijsman EM,Austin MA

    更新日期：1999-02-01 00:00:00

  • Genotyping Array Design and Data Quality Control in the Million Veteran Program.

    abstract：:The Million Veteran Program (MVP), initiated by the Department of Veterans Affairs (VA), aims to collect biosamples with consent from at least one million veterans. Presently, blood samples have been collected from over 800,000 enrolled participants. The size and diversity of the MVP cohort, as well as the availabilit...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.03.004

    authors： Hunter-Zinck H,Shi Y,Li M,Gorman BR,Ji SG,Sun N,Webster T,Liem A,Hsieh P,Devineni P,Karnam P,Gong X,Radhakrishnan L,Schmidt J,Assimes TL,Huang J,Pan C,Humphries D,Brophy M,Moser J,Muralidhar S,Huang GD,Przygod

    更新日期：2020-04-02 00:00:00

  • Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures.

    abstract：:To detect heterozygotes for maple-syrup-urine disease (MSUD), activities of branched-chain-alpha-ketoacid (BCKA) dehydrogenase and its components in skin fibroblasts of two obligatory heterozygotes and amnion cells of a fetus at risk were measured. Intact heterozygous cells were found to decarboxylate [1-14C] alpha-ke...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Chuang DT,Ku LS,Kerr DS,Cox RP

    更新日期：1982-05-01 00:00:00

  • Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

    abstract：:Hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder belonging to a group of muscle diseases involving the abnormal function of ion channels. This group of muscle diseases also comprises hyperkalemic periodic paralysis and paramyotonia congenita, both sodium-channel diseases, and myotonia congenit...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Elbaz A,Vale-Santos J,Jurkat-Rott K,Lapie P,Ophoff RA,Bady B,Links TP,Piussan C,Vila A,Monnier N

    更新日期：1995-02-01 00:00:00

  • Mapping of small RNAs in the human ENCODE regions.

    abstract：:The elucidation of the largely unknown transcriptome of small RNAs is crucial for the understanding of genome and cellular function. We report here the results of the analysis of small RNAs (< 50 nt) in the ENCODE regions of the human genome. Size-fractionated RNAs from four different cell lines (HepG2, HelaS3, GM0699...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2008.02.016

    authors： Borel C,Gagnebin M,Gehrig C,Kriventseva EV,Zdobnov EM,Antonarakis SE

    更新日期：2008-04-01 00:00:00

  • A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.

    abstract：:A gene for Holt-Oram syndrome (HOS) has been previously mapped to chromosome 12q2 and designated HOS1. We have identified a HOS patient with a de novo chromosomal rearrangement involving 12q. Detailed cytogenetic analysis of this case reveals three breaks on 12q, and two of these are within the HOS1 interval. By using...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Terrett JA,Newbury-Ecob R,Smith NM,Li QY,Garrett C,Cox P,Bonnet D,Lyonnet S,Munnich A,Buckler AJ,Brook JD

    更新日期：1996-12-01 00:00:00

  • The first arrival time and mean age of a deleterious mutant gene in a finite population.

    abstract：:The mean and standard deviation of the first arrival time for a single mutant to reach a certain frequency and the mean age of a mutant persisting in a population have been studied using diffusion methods. These quantities are shown to be highly dependent on both the heterozygous effect and the population size. For pa...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Li WH

    更新日期：1975-05-01 00:00:00

  • Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics.

    abstract：:The introduction of stochastic methods in pedigree analysis has enabled geneticists to tackle computations intractable by standard deterministic methods. Until now these stochastic techniques have worked by running a Markov chain on the set of genetic descent states of a pedigree. Each descent state specifies the path...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Sobel E,Lange K

    更新日期：1996-06-01 00:00:00

  • A statistical method for identification of polymorphisms that explain a linkage result.

    abstract：:Suppose that many polymorphic sites have been identified and genotyped in a region showing strong linkage with a trait. A key question of interest is which site (or combination of sites) in the region influences susceptibility to the trait. We have developed a novel statistical approach to this problem, in the context...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/338660

    authors： Sun L,Cox NJ,McPeek MS

    更新日期：2002-02-01 00:00:00

  • Isolated persistent hypermethioninemia.

    abstract：:New information has been obtained on 30 patients with isolated persistent hypermethioninemia, most of them previously unreported. Biopsies to confirm the presumptive diagnosis of partially deficient activity of ATP: L-methionine S-adenosyltransferase (MAT; E.C.2.5.1.6) in liver were not performed on most of these pati...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Mudd SH,Levy HL,Tangerman A,Boujet C,Buist N,Davidson-Mundt A,Hudgins L,Oyanagi K,Nagao M,Wilson WG

    更新日期：1995-10-01 00:00:00

  • A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

    abstract：:Sensorineural deafness and retinitis pigmentosa (RP) are the hallmarks of Usher syndrome (USH) but are also prominent features in peroxisomal biogenesis defects (PBDs); both are autosomal recessively inherited. The firstborn son of unrelated parents, who both had sensorineural deafness and RP diagnosed as USH, present...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/339766

    authors： Raas-Rothschild A,Wanders RJ,Mooijer PA,Gootjes J,Waterham HR,Gutman A,Suzuki Y,Shimozawa N,Kondo N,Eshel G,Espeel M,Roels F,Korman SH

    更新日期：2002-04-01 00:00:00

  • Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

    abstract：:Charcot-Marie-Tooth disease is characterized by length-dependent axonal degeneration with distal sensory loss and weakness, deep-tendon-reflex abnormalities, and skeletal deformities. It is caused by mutations in more than 40 genes. We investigated a four-generation family with 23 members affected by the axonal form (...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.07.002

    authors： Weedon MN,Hastings R,Caswell R,Xie W,Paszkiewicz K,Antoniadi T,Williams M,King C,Greenhalgh L,Newbury-Ecob R,Ellard S

    更新日期：2011-08-12 00:00:00

  • Hereditary polyposis coli. III. Genetic and evolutionary fitness.

    abstract：:The numbers of progeny born to 355 patients with heritable polyposis of the colon and to 315 related, but normal, subjects, all old enough to have completed their families, are presented, as well as data on 432 subjects still young enough to have more children. Two main indices are used: mean family size ("genetic fit...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Murphy EA,Krush AJ,Dietz M,Rohde CA

    更新日期：1980-09-01 00:00:00

  • Isolation of large numbers of chromosome 3-specific cosmids containing clusters of rare restriction-endonuclease sites.

    abstract：:We tested 519 chromosome 3-specific cosmids for the presence of rare restriction-endonuclease sites in a search for cosmids containing HTF islands. We have identified 49 cosmids (9% of those tested) that contain multiple rare restriction-endonuclease sites. The cosmids were digested with several common cutting restric...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Golembieski WA,Smith SE,Recchia F,Judge A,Shridhar V,Miller OJ,Drabkin H,Smith DI

    更新日期：1991-09-01 00:00:00

  • Linkage mapping of a severe X-linked mental retardation syndrome.

    abstract：:A four-generation Swedish family with a new type of X-linked mental retardation syndrome was recently reported by Gustavson et al. The complex syndrome includes microcephaly, severe mental retardation, optical atrophy with decreased vision or blindness, severe hearing defect, characteristic facial features, spasticity...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Malmgren H,Sundvall M,Dahl N,Gustavson KH,Annerén G,Wadelius C,Steén-Bondeson ML,Pettersson U

    更新日期：1993-06-01 00:00:00

  • Human serum deoxyribonuclease I (DNase I) polymorphism: pattern similarities among isozymes from serum, urine, kidney, liver, and pancreas.

    abstract：:We have devised a zymogram method with high sensitivity and resolution for investigating molecular heterogeneity and genetic polymorphism of deoxyribonuclease I. A combination technique of polyacrylamide-gel isoelectric-focusing electrophoresis and the newly developed zymogram method have led to the discovery of genet...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kishi K,Yasuda T,Ikehara Y,Sawazaki K,Sato W,Iida R

    更新日期：1990-07-01 00:00:00

  • The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

    abstract：:Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. We have studied 12 unrelated TCS families with multiple affected individuals for linkage to five chromosome 5 markers. There is strong evidence demonstr...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Dixon MJ,Read AP,Donnai D,Colley A,Dixon J,Williamson R

    更新日期：1991-07-01 00:00:00

  • Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.

    abstract：:A girl with a prenatal 46,XY karyotype was born with a completely normal female phenotype, including uterus and histologically normal ovaries. In mice with a similar phenotype, the ablation of M33, an ortholog of Drosophila Polycomb, causes male-to-female sex reversal. The analysis of the human homolog of M33, Chromob...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2009.03.016

    authors： Biason-Lauber A,Konrad D,Meyer M,DeBeaufort C,Schoenle EJ

    更新日期：2009-05-01 00:00:00

  • Fine-structure genetic mapping of human chromosomes using the polymerase chain reaction on single sperm: experimental design considerations.

    abstract：:The polymerase chain reaction (PCR) makes it possible to rapidly generate a very large number of copies of a specific region of DNA. Application of PCR to individual human sperm cells permits the typing of a large number of independent male meiotic events. If the donor male is heterozygous at three loci, sperm typing ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Boehnke M,Arnheim N,Li H,Collins FS

    更新日期：1989-07-01 00:00:00

  • Mutations in HPSE2 cause urofacial syndrome.

    abstract：:Urinary voiding dysfunction in childhood, manifesting as incontinence, dysuria, and urinary frequency, is a common condition. Urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.05.006

    authors： Daly SB,Urquhart JE,Hilton E,McKenzie EA,Kammerer RA,Lewis M,Kerr B,Stuart H,Donnai D,Long DA,Burgu B,Aydogdu O,Derbent M,Garcia-Minaur S,Reardon W,Gener B,Shalev S,Smith R,Woolf AS,Black GC,Newman WG

    更新日期：2010-06-11 00:00:00

  • Causal effects of body mass index on cardiometabolic traits and events: a Mendelian randomization analysis.

    abstract：:Elevated body mass index (BMI) associates with cardiometabolic traits on observational analysis, yet the underlying causal relationships remain unclear. We conducted Mendelian randomization analyses by using a genetic score (GS) comprising 14 BMI-associated SNPs from a recent discovery analysis to investigate the caus...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.12.014

    authors： Holmes MV,Lange LA,Palmer T,Lanktree MB,North KE,Almoguera B,Buxbaum S,Chandrupatla HR,Elbers CC,Guo Y,Hoogeveen RC,Li J,Li YR,Swerdlow DI,Cushman M,Price TS,Curtis SP,Fornage M,Hakonarson H,Patel SR,Redline S,S

    更新日期：2014-02-06 00:00:00

  • The anonymous polymorphic DNA clone D1S1, previously mapped to human chromosome 1p36 by in situ hybridization, is from chromosome 3 and is duplicated on chromosome 1.

    abstract：:D1S1, a human anonymous DNA clone originally called lambda Ch4A-H3 or lambda H3, was mapped by two other laboratories to human chromosome 1p36 by in situ hybridization but its localization was not confirmed using a different mapping method. We used a panel of human-hamster somatic cell hybrids to show that there are c...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Goode ME,vanTuinen P,Ledbetter DH,Daiger SP

    更新日期：1986-04-01 00:00:00