当前位置： SCI文献检索 > HUMAN GENETICS期刊下所有文献 > Analyses of genetic abnormalities in type I CD36 deficiency in Japan: identification and cell biological characterization of two novel mutations that cause CD36 deficiency in man.

Analyses of genetic abnormalities in type I CD36 deficiency in Japan: identification and cell biological characterization of two novel mutations that cause CD36 deficiency in man.

Abstract：

:To elucidate genetic abnormalities in type I CD36 deficiency, we analyzed 28 Japanese subjects whose platelets and monocytes/macrophages lacked CD36 on their surface. We identified two novel mutations in the CD36 gene. One was a complex deletion/insertion mutation, in which 3 bp, GAG, were deleted at nucleotide (nt) 839-841, and 5 bp, AAAAC, were inserted at the same position (839-841del-->insAAAAC). Mutation 839-841del-->insAAAAC led to a frameshift and appearance of a premature stop codon; it was also accompanied with a marked reduction in the amount of CD36 mRNA. The other was a 12-bp deletion at nt 1438-1449 (1438-1449del) accompanied with or without skipping of exon 9 (nt 959-1028). Mutation 1438-1449del led to an inframe 4-amino-acid deletion, whereas exon 9 skipping led to a frameshift and the appearance of a premature stop codon. Expression assay revealed that both 1438-1449del and exon 9 skipping directly caused impairment of the surface expression of CD36. A survey of the five known mutations including 839-841del-->insAAAAC and 1438-1449del in type I CD36-deficient subjects demonstrated that the five mutations covered more than 90% of genetic defects among them and that the substitution of T for C at nt 478 (478C-->T) was the most common mutation with more than 50% frequency. However, none of the four subjects that possessed isoantibodies against CD36 had 478C-->T, suggesting that 478C-->T prevents the production of isoantibodies against CD36.

journal_name

Hum Genet

journal_title

Human genetics

authors

Kashiwagi H,Tomiyama Y,Nozaki S,Kiyoi T,Tadokoro S,Matsumoto K,Honda S,Kosugi S,Kurata Y,Matsuzawa Y

doi

10.1007/s004390100525

keywords:

subject

Has Abstract

pub_date

2001-06-01 00:00:00

pages

459-66

issue

6

eissn

0340-6717

issn

1432-1203

journal_volume

108

pub_type

杂志文章

相关文献

HUMAN GENETICS文献大全
  • Molecular characterization of HbH disease in the Cuban population.

    abstract：:Molecular characterization of the alpha-thalassemia mutations present in nine HbH subjects from Cuba was achieved by digestion with Bam HI, Bgl II, and Apa I and hybridization with alpha- and zeta-specific probes. The results show that the molecular basis of the genetic defect is quite homogeneous, all the subjects ca...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00290956

    authors： Martinez G,Ferreira R,Hernandez A,Di Rienzo A,Felicetti L,Colombo B

    更新日期：1986-04-01 00:00:00

  • Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development.

    abstract：:We report clinical and molecular findings in 15 Japanese mosaic females with r(X) chromosomes, 45,X/46,X,r(X), confirmed by fluorescence in situ hybridization (FISH) analysis for DXZ1 and whole X chromosome painting. Cases 1-3, 5-7, and 11-13 had mental retardation (MR), the remaining cases being free from MR. FISH an...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390000377

    authors： Matsuo M,Muroya K,Adachi M,Tachibana K,Asakura Y,Nakagomi Y,Hanaki K,Yokoya S,Yoshizawa A,Igarashi Y,Hanew K,Matsuo N,Ogata T

    更新日期：2000-11-01 00:00:00

  • The human apolipoprotein B 3' hypervariable region: detection of eight new alleles and comparisons of allele frequencies in blacks and whites.

    abstract：:We investigated common length polymorphisms in the hypervariable region located 3' to the human gene encoding apolipoprotein B (APOB 3' HVR) as part of the "Pathobiological Determinants of Atherosclerosis in Youth (PDAY)" study. PDAY is a multicenter study of young persons who died of external causes (accident, homici...

    journal_title：Human genetics

    pub_type： 杂志文章,多中心研究

    doi：10.1007/BF00217775

    authors： Hixson JE,Powers PK,McMahan CA

    更新日期：1993-06-01 00:00:00

  • Induction of sister chromatid exchanges by hydroxylamine, hydrazine and isoniazid and their inhibition by cysteine.

    abstract：:Experiments were performed in order to gain information about the primary process leading to the production of sister chromatid exchanges (SCEs). Radical-forming substances (hydroxylamine, hydrazine and the antituberculous drug isoniazid) were examined for their effectiveness in inducing SCEs. All three substances pro...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00278964

    authors： Speit G,Wick C,Wolf M

    更新日期：1980-01-01 00:00:00

  • Nucleolar organizing regions of human chromosomes.

    abstract：:Silver-stained cells from 49 parents with a history of several abortions were compared with cells from 35 parents with normal liveborn children. The modal and mean number of silver-stained NORs (Ag-NORs) observed on D- or G-group chromosomes was similar in both groups and between males and females. Ag-NORs were random...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00286905

    authors： Ray M,Pearson J

    更新日期：1979-04-27 00:00:00

  • A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus.

    abstract：:X-linked hydrocephalus (HSAS) is the most common form of inherited hydrocephalus characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, mental retardation, clasped thumbs, and spastic paraparesis. MASA syndrome (mental retardation, aphasia, shuffling gait and adducted thumbs) and SPG1 (X-linked com...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF02185770

    authors： Takechi T,Tohyama J,Kurashige T,Maruta K,Uyemura K,Ohi T,Matsukura S,Sakuragawa N

    更新日期：1996-03-01 00:00:00

  • Two novel frameshift mutations in the low density lipoprotein receptor gene generated by endogenous sequence-directed mechanisms.

    abstract：:DNA samples from 60 unrelated Belgian hypercholesterolemic patients were subjected to heteroduplex analysis of exon 4 of the low density lipoprotein receptor (LDLR) gene. Aberrant mobility bands were detected in 2 patients and the underlying mutations were characterized by DNA sequence analysis. Both mutations, a 19-b...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00191796

    authors： Peeters AV,Van Gaal LF,Theart L,Langenhoven E,Kotze MJ

    更新日期：1995-10-01 00:00:00

  • Two new Bf S subtypes revealed by isoelectric focusing and immunofixation.

    abstract：:The genetic types of the properdin factor B were analyzed by isoelectric focusing on polyacrylamide gels and subsequent immunofixation. Sera from 516 unrelated, healthy individuals from Southern Germany were examined. Two new subtypes of the Bf*S allele were observed. They were provisionally named Bf*Sb1 and Bf*Sb2(b ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00293880

    authors： Weidinger S,Schwarzfischer F,Burgemeister R,Cleve H

    更新日期：1984-01-01 00:00:00

  • Mitochondrial dysfunction in schizophrenia: an evolutionary perspective.

    abstract：:Schizophrenia (SCZ) is a severe psychiatric illness with a lifetime prevalence of 0.4 %. A disturbance of energy metabolism has been suggested as part of the etiopathogenesis of the disorder. Several lines of evidence have proposed a connection between etiopathogenesis of SCZ and human brain evolution, which was chara...

    journal_title：Human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s00439-014-1491-8

    authors： Gonçalves VF,Andreazza AC,Kennedy JL

    更新日期：2015-01-01 00:00:00

  • A novel delta zero-thalassemia arising from a frameshift insertion, detected by direct sequencing of enzymatically amplified DNA.

    abstract：:We describe a novel mutation in the delta globin gene of a compound heterozygote for delta o thalassemia and a deletion type G gamma + (A gamma delta beta) zero thalassemia. The delta was amplified using the polymerase chain reaction (PCR), and the amplified material was used in a direct sequencing experiment. The nuc...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00274153

    authors： Losekoot M,Fodde R,Giordano PC,Bernini LF

    更新日期：1989-08-01 00:00:00

  • Mutation spectrum and splicing variants in the OPA1 gene.

    abstract：:Optic atrophy type 1 (OPA1, MIM 165500) is a dominantly inherited optic neuropathy that features low visual acuity leading in many cases to legal blindness. We have recently shown, with others, that mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein, underlie the dominant form of optic atrophy...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-001-0633-y

    authors： Delettre C,Griffoin JM,Kaplan J,Dollfus H,Lorenz B,Faivre L,Lenaers G,Belenguer P,Hamel CP

    更新日期：2001-12-01 00:00:00

  • A girl with partial long-arm deletion of chromosome 11 and familial pericentric inversion of chromosome 9.

    abstract：:A girl with 46, XX, del (11) (q23), inv (9) (p13, q13) is described. The patient shows many dysplastic signs mainly of the face and skull. The pericentric inversion of chromosome 9 has been inherited from the mother (46, XX, inv (9) (p13, q13)). ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00390443

    authors： Zabel B,Hansen S,Hilig U,Gröting-Imhof H

    更新日期：1977-04-07 00:00:00

  • Four new nucleotide sequence polymorphisms in the LDL receptor gene detected by SSCP analysis.

    abstract：:Seven nucleotide sequence polymorphisms were detected within exons of the low-density lipoprotein (LDL) receptor gene using single-strand conformation polymorphism (SSCP) analysis followed by direct sequence analysis on amplified DNA. Four nucleotide changes at nucleotide positions 1617, 1725, 2232, and 2635 were new ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00216148

    authors： Yamakawa-Kobayashi K,Kobayashi T,Obara T,Hamaguchi H

    更新日期：1993-08-01 00:00:00

  • Novel polymorphisms and haplotypes in the human coagulation factor XIII A-subunit gene.

    abstract：:Novel polymorphic sites within the coding region of the human coagulation factor XIII A-subunit (F13A) gene and their haplotypic combinations with the other polymorphic sites thus far reported are presented. Polymorphic bands were detected in exons 2, 5, 8, 12 and 14 by using single strand conformational polymorphism ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050227

    authors： Suzuki K,Henke J,Iwata M,Henke L,Tsuji H,Fukunaga T,Ishimoto G,Szekelyi M,Ito S

    更新日期：1996-10-01 00:00:00

  • Isolation and characterization of the human mismatch repair gene hMSH2 promoter region.

    abstract：:Hereditary nonpolyposis colorectal cancer (HN-PCC) is one of man's commonest hereditary diseases. Several studies have identified four responsible genes that are involved in a process known as DNA mismatch repair; hMSH2 is the most important of these four genes. In addition to mutational analysis of these genes, inves...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00218844

    authors： Scherer SJ,Seib T,Seitz G,Dooley S,Welter C

    更新日期：1996-01-01 00:00:00

  • Effect of phospholipases on factor-VIII activity.

    abstract：:The effect of the enzymes phospholipases C and D on Factor VIII were investigated. Phospholipase D was found to activate the partially purified intact Factor-VIII molecule maximally at a final concentration of 0.6 U/ml. Neither the dissociated small molecular weight component nor the high molecular weight component we...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00272299

    authors： Ananthakrishnan R,D'Souza S

    更新日期：1978-01-19 00:00:00

  • Ring 18 mosaicism in identical twins.

    abstract：:Male identical twins with r(18)/normal mosaicism are reported. Twin 1 has the characteristic manifestations of the r(18) syndrome, but twin 2 shows a normal phenotype. Cytogenetic study of cultured lymphocytes revealed that the proportions of r(18) are 19.7% and 19.2%, respectively. However in the fibroblast cultures,...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00304559

    authors： Hata A,Suzuki Y,Matsui I,Kuroki Y

    更新日期：1982-01-01 00:00:00

  • Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin.

    abstract：:Primary open-angle glaucoma (POAG) is a leading cause of blindness in the world. A number of mutations in the myocilin gene have been identified that predispose to glaucoma. The most frequent of these is the Glutamine368STOP (Q368STOP) mutation. It has been postulated that individuals with the Q368STOP mutation are de...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-002-0865-5

    authors： Baird PN,Craig JE,Richardson AJ,Ring MA,Sim P,Stanwix S,Foote SJ,Mackey DA

    更新日期：2003-02-01 00:00:00

  • Molecular characterization of different ataxia telangiectasia T-cell clones. I. A common breakpoint at the 14q11.2 band splits the T-cell receptor alpha-chain gene.

    abstract：:Using in situ chromosomal hybridization we have mapped the gene for the T-cell receptor alpha-chain in three different non-malignant T-cell clones occurring in ataxia telangiectasia. The constant region was translocated in each of the three clones. The variable region remained in its original position in two cases and...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00291230

    authors： Stern MH,Zhang FR,Griscelli C,Thomas G,Aurias A

    更新日期：1988-01-01 00:00:00

  • Peculiarities of the GSTM1 0/0 genotype in French heavy smokers with various types of chronic bronchitis.

    abstract：:A homozygous gene deletion of the glutathione S-transferase M1 (GSTM1) locus of genomic DNA from blood spots was studied by the polymerase chain reaction in a group of French heavy smokers (n = 361), which included patients with severe chronic bronchitis (SCB; n = 87), moderate chronic bronchitis (MCB: n = 102) and ha...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050455

    authors： Baranova H,Perriot J,Albuisson E,Ivaschenko T,Baranov VS,Hemery B,Mouraire P,Riol N,Malet P

    更新日期：1997-06-01 00:00:00

  • Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.

    abstract：:With the recent advances in genomic research, it has become apparent that a substantial part of human malformation and mental retardation is caused by imbalances in genomic content. Thus, there is an increasing need for versatile methods allowing a detailed mapping and cloning of the actual rearrangements. We have com...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-004-1174-y

    authors： Dunø M,Hove H,Kirchhoff M,Devriendt K,Schwartz M

    更新日期：2004-11-01 00:00:00

  • Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.

    abstract：:Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in LMNA gene encoding lamins A and C. The disease is characterized by early onset joint contractures during childhood associated with humero-peroneal muscular wasting and weakness, and by the development of a cardiac disease in adulthood. Impo...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-010-0909-1

    authors： Granger B,Gueneau L,Drouin-Garraud V,Pedergnana V,Gagnon F,Ben Yaou R,Tezenas du Montcel S,Bonne G

    更新日期：2011-02-01 00:00:00

  • Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts.

    abstract：:Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder characterised by muscle weakness and wasting. There are two forms of DM; both of which are caused by the expansion of repeated DNA sequences. DM1 is associated with a CTG repeat located in the 3' untranslated region of a gene, DMPK and DM2 with a...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-006-0228-8

    authors： Machuca-Tzili L,Thorpe H,Robinson TE,Sewry C,Brook JD

    更新日期：2006-11-01 00:00:00

  • Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

    abstract：:Single base substitutions in DNA mismatch repair genes which are predicted to lead either to missense or silent mutations, or to intronic variants outside the highly conserved splicing region are often found in hereditary nonpolyposis colorectal cancer (HNPCC) families. In order to use the variants for predictive test...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-005-0107-8

    authors： Pagenstecher C,Wehner M,Friedl W,Rahner N,Aretz S,Friedrichs N,Sengteller M,Henn W,Buettner R,Propping P,Mangold E

    更新日期：2006-03-01 00:00:00

  • Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

    abstract：:Meckel-Gruber syndrome (MKS) is a recessively inherited, lethal disorder characterized by renal cystic dysplasia, occipital encephalocele, polydactyly and biliary dysgenesis. MKS is genetically heterogeneous with three loci mapped and two identified; MKS1 (17q23) and MKS3 (8q22.1). MKS1 is part of the Finnish disease ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-007-0341-3

    authors： Consugar MB,Kubly VJ,Lager DJ,Hommerding CJ,Wong WC,Bakker E,Gattone VH 2nd,Torres VE,Breuning MH,Harris PC

    更新日期：2007-06-01 00:00:00

  • Responses to booster hepatitis B vaccination are significantly correlated with genotypes of human leukocyte antigen (HLA)-DPB1 in neonatally vaccinated adolescents.

    abstract：:Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) near the human leukocyte antigen (HLA)-DP loci that were significantly correlated with outcomes of hepatitis B virus (HBV) infection. We performed a case-control study nested in a well-characterized cohort of booster recipients to a...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-013-1320-5

    authors： Wu TW,Chu CC,Ho TY,Chang Liao HW,Lin SK,Lin M,Lin HH,Wang LY

    更新日期：2013-10-01 00:00:00

  • A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste).

    abstract：:During a survey of the mutations of the low density lipoprotein receptor (LDL-R) gene in Italian patients with familial hypercholesterolemia (FH), we identified a novel point mutation, that creates a new EcoRI site at the 5' end of exon 7, in a heterozygous FH subject (FH-100). The sequence of a cDNA fragment encompas...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00202819

    authors： Lelli N,Garuti R,Pedrazzi P,Ghisellini M,Simone ML,Tiozzo R,Cattin L,Valenti M,Rolleri M,Bertolini S

    更新日期：1994-05-01 00:00:00

  • Flow microfluorometric DNA content measurements of tissue culture cells and peripheral lymphocytes.

    abstract：:The difference in DNA content of peripheral lymphocytes from normal males, normal females, and an individual with a 48 (xxxy) chromosome constitution was determined by rapid flow microfluorometric techniques. A similar comparison was performed using tissue culture fibroblasts derived from an individual with a 49 (xxxx...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00393583

    authors： Cram LS,Lehman JM

    更新日期：1977-06-30 00:00:00

  • "Complete" trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p. Case report and review of the literature.

    abstract：:A case of complete trisomy 5p due to a de novo translocation t(2;5)(q36;p11) with an isochromosome 5p is described. Complete trisomy 5p has been reported only once (Brimblecombe et al., 1977). The confusing literature relating to partial trisomy 5p is reviewed. Comparison of our case with the patients reported by Brim...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00273310

    authors： Leschot NJ,Lim KS

    更新日期：1979-02-15 00:00:00

  • X chromosome imprinting in fragile X syndrome.

    abstract：:Laird et al. (1987) hypothesized that there are at least four cis-acting alleles or 'chromosome states' at Xq27 that increasingly delay replication at this chromosomal area resulting in its increasing fragility in vitro. When on the inactive X chromosome, the proposed third ('mutated') allele can permanently block rea...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00193580

    authors： Yu WD,Wenger SL,Steele MW

    更新日期：1990-10-01 00:00:00