当前位置： SCI文献检索 > HUMAN GENETICS期刊下所有文献 > Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.

Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.

Abstract：

:Mucopolysaccharidosis IVA (MPS IVA) is caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase encoded by the GALNS gene on chromosome 16. We describe, in detail, the clinical phenotype of five patients from three unrelated Finnish families and have characterized the disease-causing mutations in GALNS. Genotypes of the patients are D60N/A291T, D60N/W230X, and D60N/1374delT. Mutation 1374delT introduces premature termination of GALNS. Cells over-expressing the novel mutation W230X and A291T had no residual GALNS activity, whereas D60N gave 12.2% residual activity compared with the wild type. Co-transfection of D60N/A291T and D60N/W230X showed 5.5% and 6.7% of wild type activity, respectively. The precursor proteins of D60N and A291T were observed at 55 kDa and 57 kDa, respectively, whereas there was no detectable band in cells over-expressing W230X. At 55 degrees C, the mutant protein showed lower thermostability than the wild type protein at pH 3.8 and 7.0. The tertiary structural model of the GALNS protein revealed that aspartic acid at position 60 is located on the surface of the molecule, away from the active site. This makes it unlikely that the enzymatic function of the protein with D60N is severely impaired. On the other hand, A291 and W230 are localized near the active site. The molecular characteristics of the D60N mutation explain the attenuated clinical phenotype of the patients.

journal_name

Hum Genet

journal_title

Human genetics

authors

Montaño AM,Kaitila I,Sukegawa K,Tomatsu S,Kato Z,Nakamura H,Fukuda S,Orii T,Kondo N

doi

10.1007/s00439-003-0959-8

keywords:

subject

Has Abstract

pub_date

2003-07-01 00:00:00

pages

162-9

issue

2

eissn

0340-6717

issn

1432-1203

journal_volume

113

pub_type

杂志文章

相关文献

HUMAN GENETICS文献大全
  • Glucose-6-phosphate dehydrogenase deficiency in Papua New Guinea. The description of 13 new variants.

    abstract：:A total of 362 males from various regions of Papua New Guinea were screened for red cell glucose-6-phosphate dehydrogenase (G6PD) activity. Twenty-six G6PD deficient individuals were identified. Biochemical characterization of G6PD purified from these subjects has revealed 13 new variants and several copies of previou...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00569710

    authors： Chockkalingam K,Board PG,Nurse GT

    更新日期：1982-01-01 00:00:00

  • Detection of amplified genomic sequences in human small-cell lung carcinoma cells by arbitrarily primed-PCR genomic fingerprinting.

    abstract：:The arbitrarily primed-PCR (AP-PCR) genomic fingerprinting method was applied to evaluate its effectiveness in detecting and characterizing amplified DNA fragments in two small-cell lung carcinoma (SCLC) cell lines, NCI-H69 and NCI-H82. Of the 2428 DNA fragments detected by AP-PCR using 62 arbitrary primers, 2 (0.08%)...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050203

    authors： Okazaki T,Takita J,Kohno T,Handa H,Yokota J

    更新日期：1996-09-01 00:00:00

  • High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas.

    abstract：:Schwannomas may develop sporadically or in association with NF2 and schwannomatosis. The fundamental aberration in schwannomas is the bi-allelic inactivation of the NF2 gene. However, clinical and molecular data suggest that these tumors share a common pathogenetic mechanism related to as yet undefined 22q-loci. Linka...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-005-0002-3

    authors： Díaz de Ståhl T,Hansson CM,de Bustos C,Mantripragada KK,Piotrowski A,Benetkiewicz M,Jarbo C,Wiklund L,Mathiesen T,Nyberg G,Collins VP,Evans DG,Ichimura K,Dumanski JP

    更新日期：2005-10-01 00:00:00

  • The genes for the human VPS10 domain-containing receptors are large and contain many small exons.

    abstract：:The two human proteins with a VPS10 domain, SorLA and sortilin, both bind neuropeptides. Searching for other VPS10-domain proteins in the database revealed three new putative human neuropeptide receptors. The new receptors were designated SorCS1, SorCS2 and SorCS3, due to their identical domain composition, which, exc...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390100504

    authors： Hampe W,Rezgaoui M,Hermans-Borgmeyer I,Schaller HC

    更新日期：2001-06-01 00:00:00

  • On consanguineous marriages and the genetic load.

    abstract：:It has been reported that studies of the genetic consequences of inbreeding should adopt a different strategy in populations having a relatively old inbreeding history and where inbreeding levels have varied over time. This contention is tested with a series of 39,495 single-birth records from Bombay, India, collected...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00390435

    authors： Chakraborty R,Chakravarti A

    更新日期：1977-04-07 00:00:00

  • A case of long arm deletion of the X chromosome in a patient with secondary amenorrhea.

    abstract：:This paper presents the clinical and cytogenetic findings in a female patient with secondary amenorrhea and normal phenotype. Some difficulties related to karyotype-phenotype correlation are discussed. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00273289

    authors： Branković S,Laća Z,Dramusić V,Ivanović M,Morić-Petrović S

    更新日期：1979-04-17 00:00:00

  • Cloning of contiguous genomic fragments from human chromosome 21 harbouring three trefoil peptide genes.

    abstract：:A group of small peptides with a typical cysteine-rich domain (termed trefoil motif or P-domain) is abundantly expressed at mucosal surfaces of specific normal and neoplastic tissues. Their association with the maintenance of surface integrity was suggested. The first known human trefoil peptide (pS2) was isolated fro...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050198

    authors： Beck S,Schmitt H,Shizuya H,Blin N,Gött P

    更新日期：1996-08-01 00:00:00

  • Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family.

    abstract：:Retinitis pigmentosa is a genetically heterogeneous form of retinal degeneration, which has X-linked, autosomal recessive and autosomal dominant forms. The disease genes in families with autosomal dominant retinitis pigmentosa (adRP) have been linked to six loci, on 3q, 6p, 7p, 7q, 8q and 19q. In a large American fami...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00225078

    authors： McGuire RE,Gannon AM,Sullivan LS,Rodriguez JA,Daiger SP

    更新日期：1995-01-01 00:00:00

  • Sensitivity of Bloom's syndrome lymphocytes to ethyl methanesulfonate.

    abstract：:Ethyl methanesulfonate induced several times as many sister chromatid exchanges (SCE's) in lymphocytes from individuals affected with Bloom's syndrome as in lymphocytes from controls or heterozygotes. In cultures of cells from an individual with Bloom's syndrome who had two populations of lymphocytes circulating in hi...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00390236

    authors： Krepinsky AB,Heddle JA,German J

    更新日期：1979-01-01 00:00:00

  • Genetic testing and risk assessment for spinal muscular atrophy (SMA).

    abstract：:Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting approximately 1 in 10,000 live births, and with a carrier frequency of approximately 1 in 50. Because of gene deletion or conversion, SMN1 exon 7 is homozygously absent in approximately 94% of patients with clinically typic...

    journal_title：Human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s00439-002-0828-x

    authors： Ogino S,Wilson RB

    更新日期：2002-12-01 00:00:00

  • Fine-mapping the genetic basis of CRP regulation in African Americans: a Bayesian approach.

    abstract：:Basal levels of C-reactive protein (CRP) have been associated with disease, particularly future cardiovascular events. Twin studies estimate 50% CRP heritability, so the identification of genetic variants influencing CRP expression is important. Existing studies in populations of European ancestry have identified nume...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-008-0517-5

    authors： Rhodes B,Morris DL,Subrahmanyan L,Aubin C,de Leon CF,Kelly JF,Evans DA,Whittaker JC,Oksenberg JR,De Jager PL,Vyse TJ

    更新日期：2008-07-01 00:00:00

  • Genetic variation of hexosaminidase A and arylsulfatase A activity. Correlation study in amnio-maternal pairs of cultured cells.

    abstract：:Pairs of cultured amniotic cells and maternal fibroblasts ("feto-maternal pairs") were studied for hexosaminidase A (HXA) and arylsulfatase A (ASA) activity. These lysosomal enzyme activities are genetically deficient in Tay-Sachs disease and metachromatic leukodystrophy, respectively. After HXA was standardized by re...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00281692

    authors： Harzer K,Hayashi K

    更新日期：1981-01-01 00:00:00

  • Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population.

    abstract：:Otosclerosis is a common form of hearing loss which typically presents in young adults. The disease has a familial, monogenic form and a non-familial form with a more complex aetiology. A previous genome wide association study identified evidence that variants within RELN are associated with the condition. Other genes...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-018-1889-9

    authors： Mowat AJ,Crompton M,Ziff JL,Aldren CP,Lavy JA,Saeed SR,Dawson SJ

    更新日期：2018-05-01 00:00:00

  • Variation in the FABP2 promoter alters transcriptional activity and is associated with body composition and plasma lipid levels.

    abstract：:The fatty acid-binding proteins (FABPs) are cytoplasmic proteins involved in intracellular fatty acid transport and metabolism. FABP2, the intestinal-type FABP, is expressed exclusively in enterocytes in the small intestine. In previous studies of an Ala54Thr substitution in FABP2, the Thr-allele showed association wi...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-003-0937-1

    authors： Damcott CM,Feingold E,Moffett SP,Barmada MM,Marshall JA,Hamman RF,Ferrell RE

    更新日期：2003-05-01 00:00:00

  • Genome-wide methylation analysis in Silver-Russell syndrome patients.

    abstract：:Silver-Russell syndrome (SRS) is a clinically heterogeneous disorder characterised by severe in utero growth restriction and poor postnatal growth, body asymmetry, irregular craniofacial features and several additional minor malformations. The aetiology of SRS is complex and current evidence strongly implicates imprin...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-014-1526-1

    authors： Prickett AR,Ishida M,Böhm S,Frost JM,Puszyk W,Abu-Amero S,Stanier P,Schulz R,Moore GE,Oakey RJ

    更新日期：2015-03-01 00:00:00

  • Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia.

    abstract：:Trust may be important in shaping public attitudes to genetics and intentions to participate in genomics research and big data initiatives. As such, we examined trust in data sharing among the general public. A cross-sectional online survey collected responses from representative publics in the USA, Canada, UK and Aus...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-019-02062-0

    authors： Milne R,Morley KI,Howard H,Niemiec E,Nicol D,Critchley C,Prainsack B,Vears D,Smith J,Steed C,Bevan P,Atutornu J,Farley L,Goodhand P,Thorogood A,Kleiderman E,Middleton A,Participant Values Work Stream of the Global Allia

    更新日期：2019-12-01 00:00:00

  • Polymerase chain reaction amplification of two polymorphic simple repeat sequences within the von Willebrand factor gene: application to family studies in von Willebrand disease.

    abstract：:We have used the polymerase chain reaction to amplify two variable number of tandem repeats (VNTRs) within a region of repetitive DNA located in intron 40 of the von Willebrand factor (vWf) gene. Heterozygosity for VNTR I was observed in 30 out of 39 normal unrelated individuals tested (77%), and for VNTR II in 29 out...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00217122

    authors： Cumming AM,Armstrong JG,Pendry K,Burn AM,Wensley RT

    更新日期：1992-05-01 00:00:00

  • Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classification.

    abstract：:Among the different subtypes of Ehlers-Danlos syndrome (EDS), the dominant types I-III have, so far, been uninformative biochemically and molecular genetically, and diagnostic problems with subgroup boundaries often arise. We have investigated the ultrastructural pattern of connective tissue macromolecules in skin bio...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00201664

    authors： Hausser I,Anton-Lamprecht I

    更新日期：1994-04-01 00:00:00

  • A woman carrier of two apparently unrelated reciprocal translocations: prenatal diagnosis of normal karyotype in the foetus.

    abstract：:Two reciprocal balanced translocations involving chromosomes 2, 9, 12, and 18 were found in the karyotype of a woman with a child showing several congenital malformations at birth. Prenatal cytogenetic diagnosis, performed when a second pregnancy occurred, showed a normal chromosome constitution in the foetus. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00291917

    authors： Simoni G,Montali E,Rossella F,Dalprà L,Lo Curto F

    更新日期：1979-01-25 00:00:00

  • Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

    abstract：:Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as blepharophimosis-ptosis-intellectual disability syndrome), an autosomal recessive condition characterized by hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-014-1436-2

    authors： Basel-Vanagaite L,Yilmaz R,Tang S,Reuter MS,Rahner N,Grange DK,Mortenson M,Koty P,Feenstra H,Farwell Gonzalez KD,Sticht H,Boddaert N,Désir J,Anyane-Yeboa K,Zweier C,Reis A,Kubisch C,Jewett T,Zeng W,Borck G

    更新日期：2014-07-01 00:00:00

  • Reduced frequencies of mitomycin-C induced sister chromatid exchanges in AKR mice.

    abstract：:The frequencies of base-line and Mitomycin-C (MMC) induced sister chromatid exchanges (SCE) were surveyed in four inbred strains of mice. In contrast to the C57Bl/6J, CBA/J, and A/J strains where frequencies of SCE increased linearly with increasing dose of MMC, levels of SCE were significantly lower in AKR/J mice at ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00278870

    authors： Kram D,Schneider EL

    更新日期：1978-02-23 00:00:00

  • Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.

    abstract：:Most individuals with osteogenesis imperfecta (OI) are heterozygous for dominant mutations in one of the genes that encode the chains of type I collagen. Each of the more than 30 mutations characterized to date has been unique to the affected member(s) of the family. We have determined that two individuals with a prog...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF01213088

    authors： Pruchno CJ,Cohn DH,Wallis GA,Willing MC,Starman BJ,Zhang XM,Byers PH

    更新日期：1991-05-01 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

  • Correction to: Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories.

    abstract：:In the Original article published, the figure number 5: Genomic distribution of ROH is incorrectly published. The correct figure is given below. ...

    journal_title：Human genetics

    pub_type： 已发布勘误

    doi：10.1007/s00439-019-02053-1

    authors： Ceballos FC,Hazelhurst S,Ramsay M

    更新日期：2019-10-01 00:00:00

  • Detection of heterozygous carriers of the ataxia-telangiectasia (ATM) gene by G2 phase chromosomal radiosensitivity of peripheral blood lymphocytes.

    abstract：:In ataxia-telangiectasia (A-T) patients, mutations in a single gene, ATM, result in an autosomal recessive syndrome that embraces a variety of clinical features and manifests extreme radiosensitivity and a strong pre-disposition to malignancy. Heterozygotes for the ATM gene have no clinical expression of A-T but may b...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050634

    authors： Tchirkov A,Bay JO,Pernin D,Bignon YJ,Rio P,Grancho M,Kwiatkowski F,Giollant M,Malet P,Verrelle P

    更新日期：1997-12-01 00:00:00

  • Changes in the incidence of Down syndrome in Sweden during 1968-1982.

    abstract：:A continuous increase in the incidence of Down syndrome in Sweden was noted during 1979-1981. This increase mainly occurred among children of younger mothers and was more pronounced for the males than for the females. There was no evidence of a significant seasonal variation, increased frequency of prematurely born ch...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：

    authors： Iselius L,Lindsten J

    更新日期：1986-02-01 00:00:00

  • New insights into the effects of extra nucleolus organizer regions.

    abstract：:Chromosome studies were carried out in four members of a sibship with a 15p+ chromosome. Two carriers had normal offspring, one was unmarried, and the index case had three abortions and no live children. By means of different banding techniques, up to four satellites and four stalks could be observed on the abnormal c...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00278823

    authors： Pérez-Castillo A,Martín-Lucas MA,Abrisqueta JA

    更新日期：1986-01-01 00:00:00

  • Synergistic contribution of CD14 and HLA loci in the susceptibility to Buerger disease.

    abstract：:Buerger disease (BD) is an occulusive vascular disease of unknown etiology. Although cigarette smoking is a well-known risk factor of BD, genetic factors may also play a role in the etiology. Because chronic bacterial infection such as oral periodontitis is suggested to be involved in the pathogenesis of BD, gene poly...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-007-0408-1

    authors： Chen Z,Takahashi M,Naruse T,Nakajima T,Chen YW,Inoue Y,Ishikawa I,Iwai T,Kimura A

    更新日期：2007-11-01 00:00:00

  • Chromosome heteromorphisms in the Japanese. II. Nucleolus organizer regions of variant chromosomes in D and G groups.

    abstract：:The nucleolus organizer regions (NORs) of variant D- and G-group chromosomes characterized by enlargements of the short arms including secondary constrictions and satellites, were examined using the silver-staining method. Of a total of nine variants examined, four were found to have double Ag-stained NORs in the enla...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00291776

    authors： Sofuni T,Tanabe K,Awa AA

    更新日期：1980-01-01 00:00:00

  • Satellite-association frequency and rDNA content of a double-satellited chromosome.

    abstract：:A correlation between the amount of rDNA and the frequency of participation in satellite associations is observed in a double-satellited human acrocentric chromosome. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00270407

    authors： Henderson AS,Atwood KC

    更新日期：1976-01-28 00:00:00