当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > The Expanding Landscape of Alternative Splicing Variation in Human Populations.

The Expanding Landscape of Alternative Splicing Variation in Human Populations.

Abstract：

:Alternative splicing is a tightly regulated biological process by which the number of gene products for any given gene can be greatly expanded. Genomic variants in splicing regulatory sequences can disrupt splicing and cause disease. Recent developments in sequencing technologies and computational biology have allowed researchers to investigate alternative splicing at an unprecedented scale and resolution. Population-scale transcriptome studies have revealed many naturally occurring genetic variants that modulate alternative splicing and consequently influence phenotypic variability and disease susceptibility in human populations. Innovations in experimental and computational tools such as massively parallel reporter assays and deep learning have enabled the rapid screening of genomic variants for their causal impacts on splicing. In this review, we describe technological advances that have greatly increased the speed and scale at which discoveries are made about the genetic variation of alternative splicing. We summarize major findings from population transcriptomic studies of alternative splicing and discuss the implications of these findings for human genetics and medicine.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Park E,Pan Z,Zhang Z,Lin L,Xing Y

doi

10.1016/j.ajhg.2017.11.002

subject

Has Abstract

pub_date

2018-01-04 00:00:00

pages

11-26

issue

1

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(17)30454-8

journal_volume

102

pub_type

杂志文章,评审

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • A multipoint linkage map of the distal short arm of the human X chromosome.

    abstract：:The distal portion of the short arm of the human X chromosome (Xp) exhibits many unique and interesting features. Distal Xp contains the pseudoautosomal region, a number of disease loci, and several cell-surface markers. Several genes in this area have also been observed to escape X-chromosomal inactivation. The chara...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Johnson CL,Charmley P,Yen PH,Shapiro LJ

    更新日期：1991-08-01 00:00:00

  • Bayesian mapping of quantitative trait loci for multiple complex traits with the use of variance components.

    abstract：:Complex traits important for humans are often correlated phenotypically and genetically. Joint mapping of quantitative-trait loci (QTLs) for multiple correlated traits plays an important role in unraveling the genetic architecture of complex traits. Compared with single-trait analysis, joint mapping addresses more que...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/519495

    authors： Liu J,Liu Y,Liu X,Deng HW

    更新日期：2007-08-01 00:00:00

  • A unified stepwise regression procedure for evaluating the relative effects of polymorphisms within a gene using case/control or family data: application to HLA in type 1 diabetes.

    abstract：:A stepwise logistic-regression procedure is proposed for evaluation of the relative importance of variants at different sites within a small genetic region. By fitting statistical models with main effects, rather than modeling the full haplotype effects, we generate tests, with few degrees of freedom, that are likely ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/338007

    authors： Cordell HJ,Clayton DG

    更新日期：2002-01-01 00:00:00

  • Mismatches in genetic markers in a large family study.

    abstract：:The Hawaii Family Study of Cognition provided an opportunity to investigate the frequency and implications of non-agreement, or mismatches, between observed and expected genetic marker phenotypes of husbands, wives, and children. Mismatch data from 68 families in which one or both spouses were known not to be a biolog...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Ashton GC

    更新日期：1980-07-01 00:00:00

  • Patterns of maternal transmission in bipolar affective disorder.

    abstract：:The mode of inheritance of bipolar affective disorder (BPAD) appears complex, and non-Mendelian models of inheritance have been postulated. Two non-Mendelian phenomena, genomic imprinting and mitochondrial inheritance, may contribute to the complex inheritance pattern seen in BPAD. Both imprinting and mitochondrial in...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： McMahon FJ,Stine OC,Meyers DA,Simpson SG,DePaulo JR

    更新日期：1995-06-01 00:00:00

  • Molecular analyses of an acidic transthyretin Asn 90 variant.

    abstract：:A mutation in transthyretin (TTR Asn 90) has been identified in the Portuguese and German populations. This variant has a lower pI and was found by screening analyses in 2/4,000 German subjects and in 4/1,200 Portuguese by using either double one-dimensional (D1-D) electrophoresis with isoelectric focusing (IEF) or hy...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Saraiva MJ,Almeida MR,Alves IL,Moreira P,Gawinowicz M,Costa PP,Rauh S,Banhzoff A,Altland K

    更新日期：1991-05-01 00:00:00

  • Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22).

    abstract：:Although balanced translocations are among the most common human chromosomal aberrations, the constitutional t(11;22)(q23;q11) is the only known recurrent non-Robertsonian translocation. Evidence indicates that de novo formation of the t(11;22) occurs during meiosis. To test the hypothesis that spatial proximity of ch...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/507652

    authors： Ashley T,Gaeth AP,Inagaki H,Seftel A,Cohen MM,Anderson LK,Kurahashi H,Emanuel BS

    更新日期：2006-09-01 00:00:00

  • A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.

    abstract：:Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the low-density-lipoprotein (LDL) receptor. Here we characterize an LDL-receptor founder mutation that is associated with a distinct LDL-receptor haplotype and is responsible for FH in 35% of 71 Jewish-Ashkenazi FH families in I...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Meiner V,Landsberger D,Berkman N,Reshef A,Segal P,Seftel HC,van der Westhuyzen DR,Jeenah MS,Coetzee GA,Leitersdorf E

    更新日期：1991-08-01 00:00:00

  • Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

    abstract：:The disease classification neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive neurodegenerative disorders characterized by brain iron deposits in the basal ganglia. For about half of the cases, the molecular basis is currently unknown. We use...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.09.007

    authors： Hartig MB,Iuso A,Haack T,Kmiec T,Jurkiewicz E,Heim K,Roeber S,Tarabin V,Dusi S,Krajewska-Walasek M,Jozwiak S,Hempel M,Winkelmann J,Elstner M,Oexle K,Klopstock T,Mueller-Felber W,Gasser T,Trenkwalder C,Tiranti V,Kr

    更新日期：2011-10-07 00:00:00

  • Allele-Specific QTL Fine Mapping with PLASMA.

    abstract：:Although quantitative trait locus (QTL) associations have been identified for many molecular traits such as gene expression, it remains challenging to distinguish the causal nucleotide from nearby variants. In addition to traditional QTLs by association, allele-specific (AS) QTLs are a powerful measure of cis-regulati...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.12.011

    authors： Wang AT,Shetty A,O'Connor E,Bell C,Pomerantz MM,Freedman ML,Gusev A

    更新日期：2020-02-06 00:00:00

  • Risk prediction of complex diseases from family history and known susceptibility loci, with applications for cancer screening.

    abstract：:Risk prediction based on genomic profiles has raised a lot of attention recently. However, family history is usually ignored in genetic risk prediction. In this study we proposed a statistical framework for risk prediction given an individual's genotype profile and family history. Genotype information about the relati...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.04.001

    authors： So HC,Kwan JS,Cherny SS,Sham PC

    更新日期：2011-05-13 00:00:00

  • The role of community review in evaluating the risks of human genetic variation research.

    abstract：:The practicality and moral value of community review of human genetic research has become a focus of debate. Examples from two Native American communities are used to address four aspects of that debate: (1) the value of community review in larger, geographically dispersed populations; (2) the identification of cultur...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302415

    authors： Foster MW,Sharp RR,Freeman WL,Chino M,Bernsten D,Carter TH

    更新日期：1999-06-01 00:00:00

  • Different genetic components in the Ethiopian population, identified by mtDNA and Y-chromosome polymorphisms.

    abstract：:Seventy-seven Ethiopians were investigated for mtDNA and Y chromosome-specific variations, in order to (1) define the different maternal and paternal components of the Ethiopian gene pool, (2) infer the origins of these maternal and paternal lineages and estimate their relative contributions, and (3) obtain informatio...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301702

    authors： Passarino G,Semino O,Quintana-Murci L,Excoffier L,Hammer M,Santachiara-Benerecetti AS

    更新日期：1998-02-01 00:00:00

  • Offering cystic fibrosis carrier screening to an HMO population: factors associated with utilization.

    abstract：:We offered cystic fibrosis (CF) carrier testing to reproductive-age enrollees in an HMO, in order to determine factors associated with test utilization in a primarily nonpregnant population. Male and female enrollees either were mailed an invitation to have the test after attending an educational session (N = 2,713) o...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Tambor ES,Bernhardt BA,Chase GA,Faden RR,Geller G,Hofman KJ,Holtzman NA

    更新日期：1994-10-01 00:00:00

  • Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations.

    abstract：:To define Y-chromosome haplotypes, we studied seven biallelic polymorphic sites. We combined data with those from four dinucleotide-repeat polymorphisms, to establish Y-chromosome compound superhaplotypes. Eight biallelic haplotypes that matched the dendrogram proposed by other investigators were identified in 762 Y c...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302538

    authors： Scozzari R,Cruciani F,Santolamazza P,Malaspina P,Torroni A,Sellitto D,Arredi B,Destro-Bisol G,De Stefano G,Rickards O,Martinez-Labarga C,Modiano D,Biondi G,Moral P,Olckers A,Wallace DC,Novelletto A

    更新日期：1999-09-01 00:00:00

  • A discordant-sibship test for disequilibrium and linkage: no need for parental data.

    abstract：:The sibship disequilibrium test (SDT) is designed to detect both linkage in the presence of association and association in the presence of linkage (linkage disequilibrium). The test does not require parental data but requires discordant sibships with at least one affected and one unaffected sibling. The SDT has many d...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302137

    authors： Horvath S,Laird NM

    更新日期：1998-12-01 00:00:00

  • Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

    abstract：:Mutations in the MCOLN1 gene cause mucolipidosis type IV (MLIV), a severely debilitating, autosomal recessive, lysosomal storage disorder. Approximately 80% of patients with MLIV are of Ashkenazi Jewish (AJ) descent, and two mutations, IVS3-2A-->G and 511del6434, account for >95% of the mutant alleles in this populati...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/339519

    authors： Edelmann L,Dong J,Desnick RJ,Kornreich R

    更新日期：2002-04-01 00:00:00

  • A gene that regulates DNA replication in response to DNA damage is located on human chromosome 4q.

    abstract：:Inhibition of replicative DNA synthesis following gamma-irradiation is observed in eukaryotic cells but is defective in cells derived from patients with the cancer-prone inherited disorder ataxia-telangiectasia (A-T) and in A-T-like Chinese hamster cell mutants. Chinese hamster cells show a less pronounced inhibition ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Verhaegh GW,Jongmans W,Jaspers NG,Natarajan AT,Oshimura M,Lohman PH,Zdzienicka MZ

    更新日期：1995-11-01 00:00:00

  • Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.

    abstract：:Genetic linkage studies have linked congenital contractural arachnodactyly (CCA), a usually mild heritable connective-tissue disorder, to FBN2, the fibrillin gene on chromosome 5. Recently, FBN2 mutations in two patients with CCA have been described. Here we report an A-->T transversion at the -2 position of the conse...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Wang M,Clericuzio CL,Godfrey M

    更新日期：1996-11-01 00:00:00

  • miR-196a ameliorates phenotypes of Huntington disease in cell, transgenic mouse, and induced pluripotent stem cell models.

    abstract：:Huntington disease (HD) is a dominantly inherited neurodegenerative disorder characterized by dysregulation of various genes. Recently, microRNAs (miRNAs) have been reported to be involved in this dysregulation, suggesting that manipulation of appropriate miRNA regulation may have a therapeutic benefit. Here, we repor...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.05.025

    authors： Cheng PH,Li CL,Chang YF,Tsai SJ,Lai YY,Chan AW,Chen CM,Yang SH

    更新日期：2013-08-08 00:00:00

  • Recent developments in genomewide association scans: a workshop summary and review.

    abstract：:With the imminent availability of ultra-high-volume genotyping platforms (on the order of 100,000-1,000,000 genotypes per sample) at a manageable cost, there is growing interest in the possibility of conducting genomewide association studies for a variety of diseases but, so far, little consensus on methods to design ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1086/432962

    authors： Thomas DC,Haile RW,Duggan D

    更新日期：2005-09-01 00:00:00

  • Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

    abstract：:Cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. By using homozygosity mapping in an individual with autosomal-recessive (ar) RP from a consanguineous family, we identified three sizeable homozygous regions, together encompassing 46 Mb...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.11.015

    authors： Estrada-Cuzcano A,Neveling K,Kohl S,Banin E,Rotenstreich Y,Sharon D,Falik-Zaccai TC,Hipp S,Roepman R,Wissinger B,Letteboer SJ,Mans DA,Blokland EA,Kwint MP,Gijsen SJ,van Huet RA,Collin RW,Scheffer H,Veltman JA,Zrenne

    更新日期：2012-01-13 00:00:00

  • Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

    abstract：:EXTL3 regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). By whole-exome sequencing, we identified homozygous missense mutations c.1382C>T, c.1537C>T, c.1970A>G, and c.2008T>G in EXTL3 in nine affected individ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2017.01.013

    authors： Oud MM,Tuijnenburg P,Hempel M,van Vlies N,Ren Z,Ferdinandusse S,Jansen MH,Santer R,Johannsen J,Bacchelli C,Alders M,Li R,Davies R,Dupuis L,Cale CM,Wanders RJA,Pals ST,Ocaka L,James C,Müller I,Lehmberg K,Strom T

    更新日期：2017-02-02 00:00:00

  • Indications of linkage and association of Gilles de la Tourette syndrome in two independent family samples: 17q25 is a putative susceptibility region.

    abstract：:Gilles de la Tourette syndrome (GTS) is characterized by multiple motor and phonic tics and high comorbidity rates with other neurobehavioral disorders. It is hypothesized that frontal-subcortical pathways and a complex genetic background are involved in the etiopathogenesis of the disorder. The genetic basis of GTS r...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/424389

    authors： Paschou P,Feng Y,Pakstis AJ,Speed WC,DeMille MM,Kidd JR,Jaghori B,Kurlan R,Pauls DL,Sandor P,Barr CL,Kidd KK

    更新日期：2004-10-01 00:00:00

  • The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.

    abstract：:A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations. Eleven of 12 infantile TSD alleles examined in six families had the beta-hexosaminidase A (Hex A) alpha-subunit exon 11 insertion m...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： McDowell GA,Mules EH,Fabacher P,Shapira E,Blitzer MG

    更新日期：1992-11-01 00:00:00

  • Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.

    abstract：:Ichthyosis prematurity syndrome (IPS) is an autosomal-recessive disorder characterized by premature birth and neonatal asphyxia, followed by a lifelong nonscaly ichthyosis with atopic manifestations. Here we show that the gene encoding the fatty acid transport protein 4 (FATP4) is mutated in individuals with IPS. Fibr...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2009.06.021

    authors： Klar J,Schweiger M,Zimmerman R,Zechner R,Li H,Törmä H,Vahlquist A,Bouadjar B,Dahl N,Fischer J

    更新日期：2009-08-01 00:00:00

  • Canine behavioral genetics: pointing out the phenotypes and herding up the genes.

    abstract：:An astonishing amount of behavioral variation is captured within the more than 350 breeds of dog recognized worldwide. Inherent in observations of dog behavior is the notion that much of what is observed is breed specific and will persist, even in the absence of training or motivation. Thus, herding, pointing, trackin...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ajhg.2007.12.001

    authors： Spady TC,Ostrander EA

    更新日期：2008-01-01 00:00:00

  • Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35.

    abstract：:The genetic locus for facioscapulohumeral muscular dystrophy (FSHD) has been mapped to chromosome 4. We have examined linkage to five chromosome 4q DNA markers in 22 multigenerational FSHD families. Multipoint linkage analyses of the segregation of four markers in the FSHD families and in 40 multigenerational mapping ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Weiffenbach B,Bagley R,Falls K,Hyser C,Storvick D,Jacobsen SJ,Schultz P,Mendell J,Willems van Dijk K,Milner EC

    更新日期：1992-08-01 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

  • Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21----4qter).

    abstract：:The structural gene for the human lysosomal enzyme aspartylglucosaminidase (AGA) has been assigned to chromosome 4 using somatic cell hybridization techniques. The human monomeric enzyme was detected in Chinese hamster-human cell hybrids by a thermal denaturation assay that selectively inactivated the Chinese hamster ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Aula P,Astrin KH,Francke U,Desnick RJ

    更新日期：1984-11-01 00:00:00