当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.

Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.

Abstract：

:X-linked forms of retinitis pigmentosa (XLRP) are among the most severe, because of their early onset, often leading to significant vision loss before the 4th decade. Previously, the RP15 locus was assigned to Xp22, by linkage analysis of a single pedigree with "X-linked dominant cone-rod degeneration." After clinical reevaluation of a female in this pedigree identified her as affected, we remapped the disease to a 19.5-cM interval (DXS1219-DXS993) at Xp11.4-p21.1. This new interval overlapped both RP3 (RPGR) and COD1. Sequencing of the previously published exons of RPGR revealed no mutations, but a de novo insertion was detected in the new RPGR exon, ORF15. The identification of an RPGR mutation in a family with a severe form of cone and rod degeneration suggests that RPGR mutations may encompass a broader phenotypic spectrum than has previously been recognized in "typical" retinitis pigmentosa.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Mears AJ,Hiriyanna S,Vervoort R,Yashar B,Gieser L,Fahrner S,Daiger SP,Heckenlively JR,Sieving PA,Wright AF,Swaroop A

doi

10.1086/303091

subject

Has Abstract

pub_date

2000-10-01 00:00:00

pages

1000-3

issue

4

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)63294-7

journal_volume

67

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

    abstract：:Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian disorders, particularly for individuals in whom a known clinical entity could not be assigned. This has led to the recognition that phenotypic heterogeneity resulting from allelic mutations occurs more commonly than previously apprec...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2017.12.015

    authors： Martinelli S,Krumbach OHF,Pantaleoni F,Coppola S,Amin E,Pannone L,Nouri K,Farina L,Dvorsky R,Lepri F,Buchholzer M,Konopatzki R,Walsh L,Payne K,Pierpont ME,Vergano SS,Langley KG,Larsen D,Farwell KD,Tang S,Mroske C

    更新日期：2018-02-01 00:00:00

  • New approach for isolation of VNTR markers.

    abstract：:Elsewhere we have reported an efficient method for isolating VNTR (Variable Number of Tandem Repeats) markers. Several of the VNTR markers isolated in those experiments were sequenced, and a DNA sequence of 9 bp (GNNGTGGG) emerged as an apparent consensus sequence for VNTR markers. To confirm this result and to develo...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Nakamura Y,Carlson M,Krapcho K,Kanamori M,White R

    更新日期：1988-12-01 00:00:00

  • Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

    abstract：:Histones mediate dynamic packaging of nuclear DNA in chromatin, a process that is precisely controlled to guarantee efficient compaction of the genome and proper chromosomal segregation during cell division and to accomplish DNA replication, transcription, and repair. Due to the important structural and regulatory rol...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.07.007

    authors： Flex E,Martinelli S,Van Dijck A,Ciolfi A,Cecchetti S,Coluzzi E,Pannone L,Andreoli C,Radio FC,Pizzi S,Carpentieri G,Bruselles A,Catanzaro G,Pedace L,Miele E,Carcarino E,Ge X,Chijiwa C,Lewis MES,Meuwissen M,Kenis S

    更新日期：2019-09-05 00:00:00

  • A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

    abstract：:In spondylocostal dysostosis (SD), vertebral-segmentation defects are associated with rib anomalies. This results in short-trunk short stature, nonprogressive kyphoscoliosis, and radiological features of multiple hemivertebrae and rib fusions. SD can be familial, and both autosomal dominant and autosomal recessive (AR...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302464

    authors： Turnpenny PD,Bulman MP,Frayling TM,Abu-Nasra TK,Garrett C,Hattersley AT,Ellard S

    更新日期：1999-07-01 00:00:00

  • A DNA polymorphism in close physical linkage with the proopiomelanocortin gene.

    abstract：:Cellular DNAs from a panel of 20 unrelated individuals were screened for restriction fragment length polymorphisms (RFLP) with a DNA probe containing the first exon of the proopiomelanocortin gene (POMC), which has been assigned to chromosome 2p23-25. Digestion with the restriction endonuclease Sst 1 revealed a high f...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Feder J,Migone N,Chang AC,Cochet M,Cohen SN,Cann H,Cavalli-Sforza LL

    更新日期：1983-11-01 00:00:00

  • Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

    abstract：:Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and hypogenitalism. Eight BBS loci have been mapped, and seven genes have been identified. BBS3 was previously mapped to chr...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/423903

    authors： Chiang AP,Nishimura D,Searby C,Elbedour K,Carmi R,Ferguson AL,Secrist J,Braun T,Casavant T,Stone EM,Sheffield VC

    更新日期：2004-09-01 00:00:00

  • Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

    abstract：:Congenital disorders of glycosylation (CDGs) are disorders of abnormal protein glycosylation that affect multiple organ systems. Because most CDGs have been described in only a few individuals, our understanding of the associated phenotypes and the mechanisms of individual survival are limited. In the process of study...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2015.12.007

    authors： Kane MS,Davids M,Adams C,Wolfe LA,Cheung HW,Gropman A,Huang Y,NISC Comparative Sequencing Program.,Ng BG,Freeze HH,Adams DR,Gahl WA,Boerkoel CF

    更新日期：2016-02-04 00:00:00

  • Detection of mutations of the RB1 gene in retinoblastoma patients by using exon-by-exon PCR-SSCP analysis.

    abstract：:Most sporadic cases of retinoblastoma, malignant eye tumor of children, may require the identification of a mutation of the retinoblastoma gene (RB1 gene) for precise genetic counseling. We established a mutation detection system of and screened for the RB1 gene mutation in 24 patients with retinoblastoma--12 bilatera...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Shimizu T,Toguchida J,Kato MV,Kaneko A,Ishizaki K,Sasaki MS

    更新日期：1994-05-01 00:00:00

  • Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion.

    abstract：:Wolfram syndrome (MIM 222300) is characterized by optic atrophy, diabetes mellitus, diabetes insipidus, neurosensory hearing loss, urinary tract abnormalities, and neurological dysfunction. The association of clinical manifestations in tissues and organs unrelated functionally or embryologically suggested the possibil...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Barrientos A,Casademont J,Saiz A,Cardellach F,Volpini V,Solans A,Tolosa E,Urbano-Marquez A,Estivill X,Nunes V

    更新日期：1996-05-01 00:00:00

  • Genomic disorders on 22q11.

    abstract：:The 22q11 region is involved in chromosomal rearrangements that lead to altered gene dosage, resulting in genomic disorders that are characterized by mental retardation and/or congenital malformations. Three such disorders-cat-eye syndrome (CES), der(22) syndrome, and velocardiofacial syndrome/DiGeorge syndrome (VCFS/...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1086/340363

    authors： McDermid HE,Morrow BE

    更新日期：2002-05-01 00:00:00

  • Multivariate Genome-wide Association Analysis of a Cytokine Network Reveals Variants with Widespread Immune, Haematological, and Cardiometabolic Pleiotropy.

    abstract：:Cytokines are essential regulatory components of the immune system, and their aberrant levels have been linked to many disease states. Despite increasing evidence that cytokines operate in concert, many of the physiological interactions between cytokines, and the shared genetic architecture that underlies them, remain...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.10.001

    authors： Nath AP,Ritchie SC,Grinberg NF,Tang HH,Huang QQ,Teo SM,Ahola-Olli AV,Würtz P,Havulinna AS,Santalahti K,Pitkänen N,Lehtimäki T,Kähönen M,Lyytikäinen LP,Raitoharju E,Seppälä I,Sarin AP,Ripatti S,Palotie A,Perola M,V

    更新日期：2019-12-05 00:00:00

  • Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.

    abstract：:Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of cartilage-capped prominences that develop from the growth centers of the long bones. EXT is genetically heterogeneous, with three loci, currently identified on chromosomes 8q24.1, 11p13, and 19q. The EXT1 gene, loca...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Hecht JT,Hogue D,Wang Y,Blanton SH,Wagner M,Strong LC,Raskind W,Hansen MF,Wells D

    更新日期：1997-01-01 00:00:00

  • The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews.

    abstract：:Idiopathic torsion dystonia (ITD) is characterized by involuntary twisting movements and postures. A gene for this disorder, DYT1, was mapped to chromosome 9q34 in 12 Ashkenazi Jewish (AJ) families and one large non-Jewish kindred. In the AJ population, strong linkage disequilibrium exists between DYT1 and adjacent ma...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kramer PL,Heiman GA,Gasser T,Ozelius LJ,de Leon D,Brin MF,Burke RE,Hewett J,Hunt AL,Moskowitz C

    更新日期：1994-09-01 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

  • Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.

    abstract：:We present a novel method for simultaneous genotype calling and haplotype-phase inference. Our method employs the computationally efficient BEAGLE haplotype-frequency model, which can be applied to large-scale studies with millions of markers and thousands of samples. We compare genotype calls made with our method to ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2009.11.004

    authors： Browning BL,Yu Z

    更新日期：2009-12-01 00:00:00

  • De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

    abstract：:Early B cell factor 3 (EBF3) is an atypical transcription factor that is thought to influence the laminar formation of the cerebral cortex. Here, we report that de novo mutations in EBF3 cause a complex neurodevelopmental syndrome. The mutations were identified in two large-scale sequencing projects: the UK Decipherin...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.11.020

    authors： Sleven H,Welsh SJ,Yu J,Churchill MEA,Wright CF,Henderson A,Horvath R,Rankin J,Vogt J,Magee A,McConnell V,Green A,King MD,Cox H,Armstrong L,Lehman A,Nelson TN,Deciphering Developmental Disorders study.,CAUSES study.,

    更新日期：2017-01-05 00:00:00

  • Promoter and 3'-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the rotterdam study.

    abstract：:Polymorphisms of the vitamin D receptor gene (VDR) have been shown to be associated with several complex diseases, including osteoporosis, but the mechanisms are unknown and study results have been inconsistent. We therefore determined sequence variation across the major relevant parts of VDR, including construction o...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/497438

    authors： Fang Y,van Meurs JB,d'Alesio A,Jhamai M,Zhao H,Rivadeneira F,Hofman A,van Leeuwen JP,Jehan F,Pols HA,Uitterlinden AG

    更新日期：2005-11-01 00:00:00

  • De novo mutations in the genome organizer CTCF cause intellectual disability.

    abstract：:An increasing number of genes involved in chromatin structure and epigenetic regulation has been implicated in a variety of developmental disorders, often including intellectual disability. By trio exome sequencing and subsequent mutational screening we now identified two de novo frameshift mutations and one de novo m...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.05.007

    authors： Gregor A,Oti M,Kouwenhoven EN,Hoyer J,Sticht H,Ekici AB,Kjaergaard S,Rauch A,Stunnenberg HG,Uebe S,Vasileiou G,Reis A,Zhou H,Zweier C

    更新日期：2013-07-11 00:00:00

  • Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.

    abstract：:Diabetes mellitus and neurodegeneration are common diseases for which shared genetic factors are still only partly known. Here, we show that loss of the BiP (immunoglobulin heavy-chain binding protein) co-chaperone DNAJC3 leads to diabetes mellitus and widespread neurodegeneration. We investigated three siblings with ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2014.10.013

    authors： Synofzik M,Haack TB,Kopajtich R,Gorza M,Rapaport D,Greiner M,Schönfeld C,Freiberg C,Schorr S,Holl RW,Gonzalez MA,Fritsche A,Fallier-Becker P,Zimmermann R,Strom TM,Meitinger T,Züchner S,Schüle R,Schöls L,Prokisch H

    更新日期：2014-12-04 00:00:00

  • A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

    abstract：:We have previously shown that a quantitative-trait locus linked to the OCA2 region of 15q accounts for 74% of variation in human eye color. We conducted additional genotyping to clarify the role of the OCA2 locus in the inheritance of eye color and other pigmentary traits associated with skin-cancer risk in white popu...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/510885

    authors： Duffy DL,Montgomery GW,Chen W,Zhao ZZ,Le L,James MR,Hayward NK,Martin NG,Sturm RA

    更新日期：2007-02-01 00:00:00

  • Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.

    abstract：:To identify genetic factors contributing to type 2 diabetes (T2D), we performed large-scale meta-analyses by using a custom ∼50,000 SNP genotyping array (the ITMAT-Broad-CARe array) with ∼2000 candidate genes in 39 multiethnic population-based studies, case-control studies, and clinical trials totaling 17,418 cases an...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,meta分析

    doi：10.1016/j.ajhg.2011.12.022

    authors： Saxena R,Elbers CC,Guo Y,Peter I,Gaunt TR,Mega JL,Lanktree MB,Tare A,Castillo BA,Li YR,Johnson T,Bruinenberg M,Gilbert-Diamond D,Rajagopalan R,Voight BF,Balasubramanyam A,Barnard J,Bauer F,Baumert J,Bhangale T,Böh

    更新日期：2012-03-09 00:00:00

  • A positive modifier of spinal muscular atrophy in the SMN2 gene.

    abstract：:Spinal muscular atrophy (SMA) is a common autosomal-recessive motor neuron disease caused by the homozygous loss of the SMN1 gene. A nearly identical gene, SMN2, has been shown to decrease the severity of SMA in a dose-dependent manner. However SMN2 is not the sole phenotypic modifier, because there are discrepant SMA...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2009.08.002

    authors： Prior TW,Krainer AR,Hua Y,Swoboda KJ,Snyder PC,Bridgeman SJ,Burghes AH,Kissel JT

    更新日期：2009-09-01 00:00:00

  • Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

    abstract：:Systemic lupus erythematosus is a prototypic autoimmune disease. Apart from rare monogenic deficiencies of complement factors, where lupuslike disease may occur in association with other autoimmune diseases or high susceptibility to bacterial infections, its etiology is multifactorial in nature. Cutaneous findings are...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/507848

    authors： Lee-Kirsch MA,Gong M,Schulz H,Rüschendorf F,Stein A,Pfeiffer C,Ballarini A,Gahr M,Hubner N,Linné M

    更新日期：2006-10-01 00:00:00

  • The gene encoding human vimentin is located on the short arm of chromosome 10.

    abstract：:The gene for vimentin, an intermediate-filament protein, is growth regulated. We used Southern blot analysis and in situ chromosome hybridization to determine the location of the human vimentin gene. Our results show that there is only one copy of the vimentin gene and that it is located on the short arm of chromosome...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Ferrari S,Cannizzaro LA,Battini R,Huebner K,Baserga R

    更新日期：1987-10-01 00:00:00

  • Purification and substrate specificity of polymorphic forms of esterase D from human erythrocytes.

    abstract：:Esterase D (EsD), purified from human erythrocytes and tested with a variety of substrates, hydrolyzed only triacetin, tributyrin, and certain soluble aryl esters of aliphatic acids. Esters of 4-methylumbelliferone were easily the best substrates. When the three genetically different isozymes were compared, the less c...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Scott EM,Wright RC

    更新日期：1978-01-01 00:00:00

  • Geographically separate increases in the frequency of the derived ADH1B*47His allele in eastern and western Asia.

    abstract：:The ADH1B Arg47His polymorphism has been convincingly associated with alcoholism in numerous studies of several populations in Asia and Europe. In a review of literature from the past 30 years, we have identified studies that report allele frequencies of this polymorphism for 131 population samples from many different...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/521201

    authors： Li H,Mukherjee N,Soundararajan U,Tarnok Z,Barta C,Khaliq S,Mohyuddin A,Kajuna SL,Mehdi SQ,Kidd JR,Kidd KK

    更新日期：2007-10-01 00:00:00

  • An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome.

    abstract：:The putative locus for hereditary mixed polyposis syndrome (HMPS) in a large family of Ashkenazi descent (SM96) was previously reported to map to chromosome sub-bands 6q16-q21. However, new clinical data, together with molecular data from additional family members, have shown 6q linkage to be incorrect. A high-density...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/375144

    authors： Jaeger EE,Woodford-Richens KL,Lockett M,Rowan AJ,Sawyer EJ,Heinimann K,Rozen P,Murday VA,Whitelaw SC,Ginsberg A,Atkin WS,Lynch HT,Southey MC,Debinski H,Eng C,Bodmer WF,Talbot IC,Hodgson SV,Thomas HJ,Tomlinson IP

    更新日期：2003-05-01 00:00:00

  • Evidence for a familial pregnancy-induced hypertension locus in the eNOS-gene region.

    abstract：:Pregnancy-induced hypertension may be regarded as a manifestation of endothelial-cell dysfunction. The role of the eNOS gene in the development of a familial pregnancy-induced hypertension was evaluated by analysis of linkage among affected sisters and in multiplex families (n = 50). Markers from a 4-cM region encodin...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/514843

    authors： Arngrímsson R,Hayward C,Nadaud S,Baldursdóttir A,Walker JJ,Liston WA,Bjarnadóttir RI,Brock DJ,Geirsson RT,Connor JM,Soubrier F

    更新日期：1997-08-01 00:00:00

  • Haplotypes in the dystrophin DNA segment point to a mosaic origin of modern human diversity.

    abstract：:Although Africa has played a central role in human evolutionary history, certain studies have suggested that not all contemporary human genetic diversity is of recent African origin. We investigated 35 simple polymorphic sites and one T(n) microsatellite in an 8-kb segment of the dystrophin gene. We found 86 haplotype...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/378777

    authors： Zietkiewicz E,Yotova V,Gehl D,Wambach T,Arrieta I,Batzer M,Cole DE,Hechtman P,Kaplan F,Modiano D,Moisan JP,Michalski R,Labuda D

    更新日期：2003-11-01 00:00:00

  • Calpainopathy-a survey of mutations and polymorphisms.

    abstract：:Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives from defects in the human CAPN3 gene, which encodes the skeletal muscle-specific member of the calpain family. This report represents a c...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302426

    authors： Richard I,Roudaut C,Saenz A,Pogue R,Grimbergen JE,Anderson LV,Beley C,Cobo AM,de Diego C,Eymard B,Gallano P,Ginjaar HB,Lasa A,Pollitt C,Topaloglu H,Urtizberea JA,de Visser M,van der Kooi A,Bushby K,Bakker E,Lopez

    更新日期：1999-06-01 00:00:00