当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.

Abstract：

:The late-infantile-onset forms are the most genetically heterogeneous group among the autosomal recessively inherited neurodegenerative disorders, the neuronal ceroid lipofuscinoses (NCLs). The Turkish variant was initially considered to be a distinct genetic entity, with clinical presentation similar to that of other forms of late-infantile-onset NCL (LINCL), including age at onset from 2 to 7 years, epileptic seizures, psychomotor deterioration, myoclonus, loss of vision, and premature death. However, Turkish variant LINCL was recently found to be genetically heterogeneous, because mutations in two genes, CLN6 and CLN8, were identified to underlie the disease phenotype in a subset of patients. After a genomewide scan with single-nucleotide-polymorphism markers and homozygosity mapping in nine Turkish families and one Indian family, not linked to any of the known NCL loci, we mapped a novel variant LINCL locus to chromosome 4q28.1-q28.2 in five families. We identified six different mutations in the MFSD8 gene (previously denoted "MGC33302"), which encodes a novel polytopic 518-amino acid membrane protein that belongs to the major facilitator superfamily of transporter proteins. MFSD8 is expressed ubiquitously, with several alternatively spliced variants. Like the majority of the previously identified NCL proteins, MFSD8 localizes mainly to the lysosomal compartment. However, the function of MFSD8 remains to be elucidated. Analysis of the genome-scan data suggests the existence of at least three more genes in the remaining five families, further corroborating the great genetic heterogeneity of LINCLs.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Siintola E,Topcu M,Aula N,Lohi H,Minassian BA,Paterson AD,Liu XQ,Wilson C,Lahtinen U,Anttonen AK,Lehesjoki AE

doi

10.1086/518902

subject

Has Abstract

pub_date

2007-07-01 00:00:00

pages

136-46

issue

1

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)62823-7

journal_volume

81

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26.

    abstract：:Moyamoya disease is characterized by bilateral stenosis and/or occlusion of the terminal portion of the internal carotid artery. Moyamoya disease is prevalent among patients <10 years of age. Although most cases appear to be sporadic, approximately 10% occur as familial cases. The incidence of familial cases has been ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302243

    authors： Ikeda H,Sasaki T,Yoshimoto T,Fukui M,Arinami T

    更新日期：1999-02-01 00:00:00

  • The effects of chorion type on variation in IQ in the NCPP twin population.

    abstract：:The 7-year IQ scores (WISC) of 116 white and 143 black nonmalformed twins of known zygosity and placental type were ascertained from the NINCDS Collaborative Perinatal Project (NCPP). The type of chorion and zygosity had no significant effect on the mean IQ or among-pair variation. In white monozygotic twins, however,...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Melnick M,Myrianthopoulos NC,Christian JC

    更新日期：1978-07-01 00:00:00

  • A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.

    abstract：:Studies in mouse and chick have shown that the 5' HoxD genes play major roles in the development of the limbs and genitalia. In humans, mutations in HOXD13 cause the dominantly inherited limb malformation synpolydactyly (SPD). Haploinsufficiency for the 5' HOXD genes has recently been proposed to underlie the monodact...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/338921

    authors： Goodman FR,Majewski F,Collins AL,Scambler PJ

    更新日期：2002-02-01 00:00:00

  • Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis.

    abstract：:The gene responsible for Krabbe disease, an autosomal recessive disorder caused by deficiency of galactocerebrosidase (GALC), was localized by multipoint linkage analysis on chromosome 14. Eight mapped dinucleotide repeat polymorphisms were tested for linkage to GALC. Two-point linkage analysis demonstrated close link...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Oehlmann R,Zlotogora J,Wenger DA,Knowlton RG

    更新日期：1993-12-01 00:00:00

  • Targeting Dyrk1A with AAVshRNA attenuates motor alterations in TgDyrk1A, a mouse model of Down syndrome.

    abstract：:Genetic-dissection studies carried out with Down syndrome (DS) murine models point to the critical contribution of Dyrk1A overexpression to the motor abnormalities and cognitive deficits displayed in DS individuals. In the present study we have used a murine model overexpressing Dyrk1A (TgDyrk1A mice) to evaluate whet...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2008.09.010

    authors： Ortiz-Abalia J,Sahún I,Altafaj X,Andreu N,Estivill X,Dierssen M,Fillat C

    更新日期：2008-10-01 00:00:00

  • Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

    abstract：:In healthy individuals, fumarylacetoacetase (FAH) activities close to the range found in hereditary tyrosinemia type 1 (HT1) patients indicated the existence of a "pseudodeficiency" allele. In an individual homozygous for pseudodeficiency of FAH and in three HT1 families also carrying the pseudodeficiency allele, west...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Rootwelt H,Brodtkorb E,Kvittingen EA

    更新日期：1994-12-01 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

  • Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.

    abstract：:Next-generation sequencing (NGS) enables analysis of the human genome on a scale previously unachievable by Sanger sequencing. Exome sequencing of the coding regions and conserved splice sites has been very successful in the identification of disease-causing mutations, and targeting of these regions has extended clini...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.11.017

    authors： Flanagan SE,Xie W,Caswell R,Damhuis A,Vianey-Saban C,Akcay T,Darendeliler F,Bas F,Guven A,Siklar Z,Ocal G,Berberoglu M,Murphy N,O'Sullivan M,Green A,Clayton PE,Banerjee I,Clayton PT,Hussain K,Weedon MN,Ellard S

    更新日期：2013-01-10 00:00:00

  • Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.

    abstract：:The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2007.12.011

    authors： Bruder CE,Piotrowski A,Gijsbers AA,Andersson R,Erickson S,Diaz de Ståhl T,Menzel U,Sandgren J,von Tell D,Poplawski A,Crowley M,Crasto C,Partridge EC,Tiwari H,Allison DB,Komorowski J,van Ommen GJ,Boomsma DI,Pedersen NL

    更新日期：2008-03-01 00:00:00

  • Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

    abstract：:Proteoglycans are a major component of extracellular matrix and contribute to normal embryonic and postnatal development by ensuring tissue stability and signaling functions. We studied five patients with recessive joint dislocations and congenital heart defects, including bicuspid aortic valve (BAV) and aortic root d...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.05.021

    authors： Baasanjav S,Al-Gazali L,Hashiguchi T,Mizumoto S,Fischer B,Horn D,Seelow D,Ali BR,Aziz SA,Langer R,Saleh AA,Becker C,Nürnberg G,Cantagrel V,Gleeson JG,Gomez D,Michel JB,Stricker S,Lindner TH,Nürnberg P,Sugahara K,

    更新日期：2011-07-15 00:00:00

  • Meta-analysis of correlated traits via summary statistics from GWASs with an application in hypertension.

    abstract：:Genome-wide association studies (GWASs) have identified many genetic variants underlying complex traits. Many detected genetic loci harbor variants that associate with multiple-even distinct-traits. Most current analysis approaches focus on single traits, even though the final results from multiple traits are evaluate...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,meta分析

    doi：10.1016/j.ajhg.2014.11.011

    authors： Zhu X,Feng T,Tayo BO,Liang J,Young JH,Franceschini N,Smith JA,Yanek LR,Sun YV,Edwards TL,Chen W,Nalls M,Fox E,Sale M,Bottinger E,Rotimi C,COGENT BP Consortium.,Liu Y,McKnight B,Liu K,Arnett DK,Chakravati A,Coo

    更新日期：2015-01-08 00:00:00

  • Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans.

    abstract：:The lymphatic vasculature is essential for the recirculation of extracellular fluid, fat absorption, and immune function and as a route of tumor metastasis. The dissection of molecular mechanisms underlying lymphangiogenesis has been accelerated by the identification of tissue-specific lymphatic endothelial markers an...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.08.008

    authors： Au AC,Hernandez PA,Lieber E,Nadroo AM,Shen YM,Kelley KA,Gelb BD,Diaz GA

    更新日期：2010-09-10 00:00:00

  • De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

    abstract：:Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of five genes encoding pre-replication complex proteins: ORC1, ORC4, ORC6, CDT1, and CDC6. Mutations in these genes cause disruption of the origin of DNA replication...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2015.11.006

    authors： Burrage LC,Charng WL,Eldomery MK,Willer JR,Davis EE,Lugtenberg D,Zhu W,Leduc MS,Akdemir ZC,Azamian M,Zapata G,Hernandez PP,Schoots J,de Munnik SA,Roepman R,Pearring JN,Jhangiani S,Katsanis N,Vissers LE,Brunner HG,

    更新日期：2015-12-03 00:00:00

  • Mapping of epidermolysis bullosa simplex mutation to chromosome 12.

    abstract：:Epidermolysis bullosa simplex (EBS) is a dominantly inherited genodermatosis characterized by intraepidermal blister formation. Recent reports have suggested that EBS mutations may relate to keratin abnormalities. In this study, we conducted RFLP analyses to test the hypothesis that EBS is linked to one of the keratin...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Ryynänen M,Knowlton RG,Uitto J

    更新日期：1991-11-01 00:00:00

  • Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.

    abstract：:We report an unusual molecular defect in the mitochondrially encoded ND1 subunit of NADH ubiquinone oxidoreductase (complex I) in a patient with mitochondrial myopathy and isolated complex I deficiency. The mutation is an inversion of seven nucleotides within the ND1 gene, which maintains the reading frame. The invers...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302927

    authors： Musumeci O,Andreu AL,Shanske S,Bresolin N,Comi GP,Rothstein R,Schon EA,DiMauro S

    更新日期：2000-06-01 00:00:00

  • Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

    abstract：:DNA replication precisely duplicates the genome to ensure stable inheritance of genetic information. Impaired licensing of origins of replication during the G1 phase of the cell cycle has been implicated in Meier-Gorlin syndrome (MGS), a disorder defined by the triad of short stature, microtia, and a/hypoplastic patel...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.05.019

    authors： Fenwick AL,Kliszczak M,Cooper F,Murray J,Sanchez-Pulido L,Twigg SR,Goriely A,McGowan SJ,Miller KA,Taylor IB,Logan C,WGS500 Consortium.,Bozdogan S,Danda S,Dixon J,Elsayed SM,Elsobky E,Gardham A,Hoffer MJ,Koopmans M,

    更新日期：2016-07-07 00:00:00

  • Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.

    abstract：:Duplications of proximal 15q have been found in individuals with autistic disorder (AD) and varying degrees of mental retardation. Often these abnormalities take the form of a supernumerary inverted duplicated chromosome 15, more properly described as an isodicentric chromosome 15, or idic(15). However, intrachromosom...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Cook EH Jr,Lindgren V,Leventhal BL,Courchesne R,Lincoln A,Shulman C,Lord C,Courchesne E

    更新日期：1997-04-01 00:00:00

  • Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

    abstract：:An autosomal recessive deficiency of acid alpha-glucosidase (GAA), type II glycogenosis, is genetically and clinically heterogeneous. The discovery of an enzyme-inactivating genomic deletion of exon 18 in three unrelated genetic compound patients--two infants and an adult--provided a rare opportunity to analyze the ef...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Boerkoel CF,Exelbert R,Nicastri C,Nichols RC,Miller FW,Plotz PH,Raben N

    更新日期：1995-04-01 00:00:00

  • Analysis of three restriction fragment length polymorphisms in the human type II procollagen gene.

    abstract：:Cloned genomic DNA sequences corresponding to various regions of the human type II procollagen gene were used to analyze the DNA from 78 normal volunteers. Southern hybridization experiments detected polymorphic HindIII, BamHI, and EcoRI sites. The presence of the polymorphic HindIII site results in a 7.0-kilobase (kb...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Eng CE,Strom CM

    更新日期：1985-07-01 00:00:00

  • The affected sib method. III. Selection and recombination.

    abstract：:The affected sib-pair method has been used to investigate the mode of inheritance, and to estimate the "disease" allele frequency, for a number of HLA-associated diseases. One of the assumptions of the original sib-pair method is that the disease confers no selective disadvantage on affected individuals. This is obvio...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Payami H,Thomson G,Louis EJ

    更新日期：1984-03-01 00:00:00

  • Topical enzyme-replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase-1-deficient skin grafts.

    abstract：:Transglutaminase-1 (TG1)-deficient autosomal-recessive congenital ichthyosis (ARCI) is a rare and severe genetic skin disease caused by mutations in TGM1. It is characterized by collodion babies at birth, dramatically increased transepidermal water loss (TEWL), and lifelong pronounced scaling. The disease has a tremen...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.08.003

    authors： Aufenvenne K,Larcher F,Hausser I,Duarte B,Oji V,Nikolenko H,Del Rio M,Dathe M,Traupe H

    更新日期：2013-10-03 00:00:00

  • The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes.

    abstract：:To establish the contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer, we have analyzed both genes in DNA samples obtained from an affected individual in each of 112 families containing at least two cases of epithelial ovarian cancer. Germline mutations were found in 43% of the families; BRCA1...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302583

    authors： Gayther SA,Russell P,Harrington P,Antoniou AC,Easton DF,Ponder BA

    更新日期：1999-10-01 00:00:00

  • Family study and segregation analysis of Tourette syndrome: evidence for a mixed model of inheritance.

    abstract：:To investigate the transmission of Tourette syndrome (TS) and associated disorders within families, complex segregation analysis was performed on family study data obtained from 53 independently ascertained children and adolescents with TS and their 154 first-degree relatives. The results suggest that the susceptibili...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Walkup JT,LaBuda MC,Singer HS,Brown J,Riddle MA,Hurko O

    更新日期：1996-09-01 00:00:00

  • Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis.

    abstract：:Mastocytosis is a rare myeloid neoplasm characterized by uncontrolled expansion of mast cells, driven in >80% of affected individuals by acquisition of the KIT D816V mutation. To explore the hypothesis that inherited variation predisposes to mastocytosis, we performed a two-stage genome-wide association study, analyzi...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.12.007

    authors： Galatà G,García-Montero AC,Kristensen T,Dawoud AAZ,Muñoz-González JI,Meggendorfer M,Guglielmelli P,Hoade Y,Alvarez-Twose I,Gieger C,Strauch K,Ferrucci L,Tanaka T,Bandinelli S,Schnurr TM,Haferlach T,Broesby-Olsen S,Veste

    更新日期：2021-01-04 00:00:00

  • TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.

    abstract：:Steroid-resistant nephrotic syndrome (SRNS) is characterized by high-range proteinuria and most often focal and segmental glomerulosclerosis (FSGS). Identification of mutations in genes causing SRNS has improved our understanding of disease mechanisms and highlighted defects in the podocyte, a highly specialized glome...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.12.016

    authors： Dorval G,Kuzmuk V,Gribouval O,Welsh GI,Bierzynska A,Schmitt A,Miserey-Lenkei S,Koziell A,Haq S,Benmerah A,Mollet G,Boyer O,Saleem MA,Antignac C

    更新日期：2019-02-07 00:00:00

  • An alternate method for demonstration of bisphosphoglyceromutase (DPGM) on starch gels.

    abstract：:The phosphatase activity of bisphosphoglyceromutase (DPGM) was used to determine the phenotypes of the enzyme. DPGM was polymorphic in four Alaskan ethnic groups. ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Scott EM,Wright RC

    更新日期：1982-11-01 00:00:00

  • c-Ha-ras-1 oncogene lies between beta-globin and insulin loci on human chromosome 11p.

    abstract：:DNA sequence polymorphisms have been used to determine the linear order and recombinational distances separating the Harvey ras 1 oncogene (c-Ha-ras-1), beta-globin, insulin, and parathyroid hormone genes on the short arm of human chromosome 11. Our results indicate that c-Ha-ras-1 is closely linked to both the beta-g...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Fearon ER,Antonarakis SE,Meyers DA,Levine MA

    更新日期：1984-03-01 00:00:00

  • De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.

    abstract：:While genetic causes are known for many syndromes involving developmental anomalies, a large number of individuals with overlapping phenotypes remain undiagnosed. Using exome-sequencing analysis and review of matchmaker databases, we have discovered four de novo missense variants predicted to affect the N-terminal reg...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.06.015

    authors： Reis LM,Sorokina EA,Thompson S,Muheisen S,Velinov M,Zamora C,Aylsworth AS,Semina EV

    更新日期：2019-08-01 00:00:00

  • Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.

    abstract：:X-linked ichthyosis (XLI) is an inborn error of metabolism caused by steroid sulfatase (STS) deficiency. In more than 80% of XLI patients the enzyme deficiency is due to large deletions involving the entire STS gene and flanking sequences. However, some patients with the classical XLI phenotype and complete STS defici...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Basler E,Grompe M,Parenti G,Yates J,Ballabio A

    更新日期：1992-03-01 00:00:00

  • Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis.

    abstract：:The Lowe syndrome (LS), or oculocerebrorenal syndrome, has been studied using DNA-based linkage analysis, and the findings have been correlated with the result of a thorough ophthalmologic examination. It was found that the LS gene was linked to markers in the Xq24-q26 region and that the locus DXS42 was the most clos...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Wadelius C,Fagerholm P,Pettersson U,Annerén G

    更新日期：1989-02-01 00:00:00