Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).


:In order to identify genes in the Prader-Willi/Angelman syndrome critical region, radiolabeled cDNA probes from poly(A)+ RNA from mouse tissues were used to identify potential exon-containing genomic DNA fragments in cosmid or phage clones from appropriate yeast artificial chromosomes, and these fragments were subsequently used to screen human cDNA libraries. A mouse brain cDNA probe was effective in detecting control genes of various abundance including small nuclear ribonucleoprotein polypeptide N (SNRPN), hypoxanthine-guanine phosphoribosyl transferase, glyceraldehyde-3-phosphate dehydrogenase, and beta-actin. Two genes mapping within the Angelman syndrome critical region were isolated. One gene was found to encode the E6-associated protein (E6-AP; gene symbol HPVE6A), a protein which interacts with the E6 protein of human papilloma virus. The other gene is previously uncharacterized and is designated PAR-2 (D15S225E) for Prader-Willi and Angelman region-gene 2. Imprinting analysis using reverse transcription-polymerase chain reaction of RNA from fibroblasts and lymphoblasts of deletion Prader-Willi and Angelman patients demonstrated imprinting of SNRPN with exclusive expression from the paternal allele, but E6-AP and PAR-2 were not imprinted in these cultured human cells. The ability to analyze for imprinting and expression of SNRPN and other genes in this region in cultured human cells will be a valuable tool for analyzing the molecular basis of the Prader-Willi and Angelman syndromes, although imprinting may differ between cultured cells and tissues.(ABSTRACT TRUNCATED AT 250 WORDS)


Hum Mol Genet


Human molecular genetics


Nakao M,Sutcliffe JS,Durtschi B,Mutirangura A,Ledbetter DH,Beaudet AL




Has Abstract


1994-02-01 00:00:00












  • Expression of the PTEN tumour suppressor protein during human development.

    abstract::The tumour suppressor gene PTEN, localized to 10q23.3, is the susceptibility gene for Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba (BRR) syndrome, two hamartoma syndromes with an increased risk of breast and thyroid tumours. Somatic mutations have been found in a variety of human tumours. Functional studies have ...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Gimm O,Attié-Bitach T,Lees JA,Vekemans M,Eng C

    更新日期:2000-07-01 00:00:00

  • Improved imputation accuracy in Hispanic/Latino populations with larger and more diverse reference panels: applications in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL).

    abstract::Imputation is commonly used in genome-wide association studies to expand the set of genetic variants available for analysis. Larger and more diverse reference panels, such as the final Phase 3 of the 1000 Genomes Project, hold promise for improving imputation accuracy in genetically diverse populations such as Hispani...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Nelson SC,Stilp AM,Papanicolaou GJ,Taylor KD,Rotter JI,Thornton TA,Laurie CC

    更新日期:2016-08-01 00:00:00

  • Functional implications of splicing polymorphisms in the human genome.

    abstract::Proper splicing is often crucial for gene functioning and its disruption may be strongly deleterious. Nevertheless, even the essential for splicing canonical dinucleotides of the splice sites are often polymorphic. Here, we use data from The 1000 Genomes Project to study single-nucleotide polymorphisms (SNPs) in the c...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Kurmangaliyev YZ,Sutormin RA,Naumenko SA,Bazykin GA,Gelfand MS

    更新日期:2013-09-01 00:00:00

  • Epigenetic regulation of COL15A1 in smooth muscle cell replicative aging and atherosclerosis.

    abstract::Smooth muscle cell (SMC) proliferation is a hallmark of vascular injury and disease. Global hypomethylation occurs during SMC proliferation in culture and in vivo during neointimal formation. Regardless of the programmed or stochastic nature of hypomethylation, identifying these changes is important in understanding v...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Connelly JJ,Cherepanova OA,Doss JF,Karaoli T,Lillard TS,Markunas CA,Nelson S,Wang T,Ellis PD,Langford CF,Haynes C,Seo DM,Goldschmidt-Clermont PJ,Shah SH,Kraus WE,Hauser ER,Gregory SG

    更新日期:2013-12-20 00:00:00

  • Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up.

    abstract::Systemic sclerosis (SSc) is complex autoimmune disease affecting the connective tissue; influenced by genetic and environmental components. Recently, we performed the first successful genome-wide association study (GWAS) of SSc. Here, we perform a large replication study to better dissect the genetic component of SSc....

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Martin JE,Broen JC,Carmona FD,Teruel M,Simeon CP,Vonk MC,van 't Slot R,Rodriguez-Rodriguez L,Vicente E,Fonollosa V,Ortego-Centeno N,González-Gay MA,García-Hernández FJ,de la Peña PG,Carreira P,Spanish Scleroderma Group.,V

    更新日期:2012-06-15 00:00:00

  • Formation of polyglutamine inclusions in non-CNS tissue.

    abstract::Huntington's disease (HD) is one of a class of inherited progressive neurodegenerative disorders that are caused by a CAG/polyglutamine repeat expansion. We have previously generated mice that are transgenic for exon 1 of the HD gene carrying highly expanded CAG repeats which develop a progressive movement disorder an...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Sathasivam K,Hobbs C,Turmaine M,Mangiarini L,Mahal A,Bertaux F,Wanker EE,Doherty P,Davies SW,Bates GP

    更新日期:1999-05-01 00:00:00

  • Association of prolactin receptor (PRLR) variants with prolactinomas.

    abstract::Prolactinomas are the most frequent type of pituitary tumors, which represent 10-20% of all intracranial neoplasms in humans. Prolactinomas develop in mice lacking the prolactin receptor (PRLR), which is a member of the cytokine receptor superfamily that signals via Janus kinase-2-signal transducer and activator of tr...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Gorvin CM,Newey PJ,Rogers A,Stokes V,Neville MJ,Lines KE,Ntali G,Lees P,Morrison PJ,Singhellakis PN,Malandrinou FC,Karavitaki N,Grossman AB,Karpe F,Thakker RV

    更新日期:2019-03-15 00:00:00

  • Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Doray B,Salomon R,Amiel J,Pelet A,Touraine R,Billaud M,Attié T,Bachy B,Munnich A,Lyonnet S

    更新日期:1998-09-01 00:00:00

  • Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

    abstract::Gene mutations that encode retinoschisin (RS1) cause X-linked retinoschisis (XLRS), a form of juvenile macular and retinal degeneration that affects males. RS1 is an adhesive protein which is proposed to preserve the structural and functional integrity of the retina, but there is very little evidence of the mechanism ...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Sergeev YV,Caruso RC,Meltzer MR,Smaoui N,MacDonald IM,Sieving PA

    更新日期:2010-04-01 00:00:00

  • Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.

    abstract::Amyotrophic lateral sclerosis (ALS) is a progressive motor neurodegeneration resulting in paralysis and death from respiratory failure within 3-5 years. About 20% of familial cases are associated with mutations in the gene for copper/zinc superoxide dismutase ( SOD1 ), which catalyses the dismutation of the superoxide...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Al-Chalabi A,Andersen PM,Chioza B,Shaw C,Sham PC,Robberecht W,Matthijs G,Camu W,Marklund SL,Forsgren L,Rouleau G,Laing NG,Hurse PV,Siddique T,Leigh PN,Powell JF

    更新日期:1998-12-01 00:00:00

  • A novel mouse model that recapitulates adult-onset glycogenosis type 4.

    abstract::Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme (GBE). The diagnostic hallmark of the disease is the accumulation of a poorly branched form of glycogen known as polyglucosan (PG). The disease is clinically heterogeneous, with variab...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Orhan Akman H,Emmanuele V,Kurt YG,Kurt B,Sheiko T,DiMauro S,Craigen WJ

    更新日期:2015-12-01 00:00:00

  • Linkage and association of adrenergic and dopamine receptor genes in the distal portion of the long arm of chromosome 5 with systolic blood pressure variation.

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Krushkal J,Xiong M,Ferrell R,Sing CF,Turner ST,Boerwinkle E

    更新日期:1998-09-01 00:00:00

  • Looking beyond the genes: the role of non-coding variants in human disease.

    abstract::Over the past decades the search for disease causing variants has been focusing exclusively on the coding genome. This highly selective approach has been extremely successful resulting in the identification of thousands of disease genes, but ignores the functional and therefore disease relevance of the rest of the gen...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Spielmann M,Mundlos S

    更新日期:2016-10-01 00:00:00

  • Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development.

    abstract::Mutations in SOX18, VEGFC and Vascular Endothelial Growth Factor 3 underlie the hereditary lymphatic disorders hypotrichosis-lymphedema-telangiectasia (HLT), Milroy-like lymphedema and Milroy disease, respectively. Genes responsible for hereditary lymphedema are key regulators of lymphatic vascular development in the ...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Kartopawiro J,Bower NI,Karnezis T,Kazenwadel J,Betterman KL,Lesieur E,Koltowska K,Astin J,Crosier P,Vermeren S,Achen MG,Stacker SA,Smith KA,Harvey NL,François M,Hogan BM

    更新日期:2014-03-01 00:00:00

  • Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

    abstract::Mutations in glucokinase (GCK) cause a spectrum of glycemic disorders. Heterozygous loss-of-function mutations cause mild fasting hyperglycemia irrespective of mutation severity due to compensation from the unaffected allele. Conversely, homozygous loss-of-function mutations cause permanent neonatal diabetes requiring...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Raimondo A,Chakera AJ,Thomsen SK,Colclough K,Barrett A,De Franco E,Chatelas A,Demirbilek H,Akcay T,Alawneh H,International NDM Consortium.,Flanagan SE,Van De Bunt M,Hattersley AT,Gloyn AL,Ellard S,International NDM Consor

    更新日期:2014-12-15 00:00:00

  • Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.

    abstract::Autosomal dominant lateral temporal epilepsy (EPT; OMIM 600512) is a form of epilepsy characterized by partial seizures, usually preceded by auditory signs. The gene for this disorder has been mapped by linkage studies to chromosomal region 10q24. Here we show that mutations in the LGI1 gene segregate with EPT in two ...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Morante-Redolat JM,Gorostidi-Pagola A,Piquer-Sirerol S,Sáenz A,Poza JJ,Galán J,Gesk S,Sarafidou T,Mautner VF,Binelli S,Staub E,Hinzmann B,French L,Prud'homme JF,Passarelli D,Scannapieco P,Tassinari CA,Avanzini G,Martí

    更新日期:2002-05-01 00:00:00

  • The fundamental and medical impacts of recent progress in research on hereditary hearing loss.

    abstract::What would define real progress in the field of deafness research in fundamental and medical terms? In fundamental terms, progress would be measured by an improvement in our knowledge of the development and physiology of the ear. In medical terms, progress would lead to the division of the broad category of hearing de...

    journal_title:Human molecular genetics

    pub_type: 杂志文章,评审


    authors: Kalatzis V,Petit C

    更新日期:1998-01-01 00:00:00

  • Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.

    abstract::Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene coding for α-galactosidase A (α-GalA). The deleterious mutations lead to accumulation of α-GalA substrates, including globotriaosylceramide (Gb3) and globotriaosylsphingosine. Progressive glycolipid storage results in cellular ...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Welford RWD,Mühlemann A,Garzotti M,Rickert V,Groenen PMA,Morand O,Üçeyler N,Probst MR

    更新日期:2018-10-01 00:00:00

  • Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.

    abstract::Biliary atresia (BA) is characterized by the progressive fibrosclerosing obliteration of the extrahepatic biliary system during the first few weeks of life. Despite early diagnosis and prompt surgical intervention, the disease progresses to cirrhosis in many patients. The current theory for the pathogenesis of BA prop...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Garcia-Barceló MM,Yeung MY,Miao XP,Tang CS,Cheng G,So MT,Ngan ES,Lui VC,Chen Y,Liu XL,Hui KJ,Li L,Guo WH,Sun XB,Tou JF,Chan KW,Wu XZ,Song YQ,Chan D,Cheung K,Chung PH,Wong KK,Sham PC,Cherny SS,Tam PK

    更新日期:2010-07-15 00:00:00

  • Cereblon suppresses the formation of pathogenic protein aggregates in a p62-dependent manner.

    abstract::Formation of protein aggregates is the hallmark of neurodegenerative diseases such as Alzheimer's disease, Huntington's disease, and frontotemporal dementia. Many ubiquitin-associated proteins are recruited to protein aggregates, such as sequestosome 1/p62 (p62), parkin, and cereblon (CRBN). However, the roles of thes...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Zhou L,Hao Z,Wang G,Xu G

    更新日期:2018-02-15 00:00:00

  • The huntingtin N17 domain is a multifunctional CRM1 and Ran-dependent nuclear and cilial export signal.

    abstract::The first 17 amino acids of Huntington's disease (HD) protein, huntingtin, comprise an amphipathic alpha-helical domain that can target huntingtin to the endoplasmic reticulum (ER). N17 is phosphorylated at two serines, shown to be important for disease development in genetic mouse models, and shown to be modified by ...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Maiuri T,Woloshansky T,Xia J,Truant R

    更新日期:2013-04-01 00:00:00

  • Deletion of the miR-379/miR-410 gene cluster at the imprinted Dlk1-Dio3 locus enhances anxiety-related behaviour.

    abstract::The brain-specific miR-379/miR-410 gene cluster at the imprinted Dlk1-Dio3 domain is implicated in several aspects of brain development and function, particularly in fine-tuning the dendritic outgrowth and spine remodelling of hippocampal neurons. Whether it might influence behaviour and memory-related processes has n...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Marty V,Labialle S,Bortolin-Cavaillé ML,Ferreira De Medeiros G,Moisan MP,Florian C,Cavaillé J

    更新日期:2016-02-15 00:00:00

  • A sea urchin gene encoding dystrophin-related proteins.

    abstract::The gene which is defective in Duchenne muscular dystrophy (DMD) is the largest known gene. The product of the gene in muscle, dystrophin, is a 427 kDa protein. The same gene encodes at least six additional products: two non-muscle dystrophin isoforms transcribed from promoters located in the 5'-end region of the gene...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Wang J,Pansky A,Venuti JM,Yaffe D,Nudel U

    更新日期:1998-04-01 00:00:00

  • Depletion of p62 reduces nuclear inclusions and paradoxically ameliorates disease phenotypes in Huntington's model mice.

    abstract::Huntington's disease (HD) is a dominantly inherited genetic disease caused by mutant huntingtin (htt) protein with expanded polyglutamine (polyQ) tracts. A neuropathological hallmark of HD is the presence of neuronal inclusions of mutant htt. p62 is an important regulatory protein in selective autophagy, a process by ...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Kurosawa M,Matsumoto G,Kino Y,Okuno M,Kurosawa-Yamada M,Washizu C,Taniguchi H,Nakaso K,Yanagawa T,Warabi E,Shimogori T,Sakurai T,Hattori N,Nukina N

    更新日期:2015-02-15 00:00:00

  • Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy.

    abstract::Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive disorder with a high spontaneous mutation rate and no effective treatment, hence development of genetic based therapies is an important goal. We report that expression of a recombinant human minidystrophin cDNA, compatible with current viral vectors, can...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Wells DJ,Wells KE,Asante EA,Turner G,Sunada Y,Campbell KP,Walsh FS,Dickson G

    更新日期:1995-08-01 00:00:00

  • A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators.

    abstract::Deletion of the distal short arm of chromosome 9 (9p) has been reported in a number of cases to be associated with gonadal dysgenesis and XY sex reversal, suggesting that this region contains one or more genes required in two copies for normal testis development. Recent studies have greatly narrowed the interval conta...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Raymond CS,Parker ED,Kettlewell JR,Brown LG,Page DC,Kusz K,Jaruzelska J,Reinberg Y,Flejter WL,Bardwell VJ,Hirsch B,Zarkower D

    更新日期:1999-06-01 00:00:00

  • Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

    abstract::Mutation analysis was performed on DNA samples of 965 individuals from four different ethnic groups in South Africa, in an attempt to determine the spectrum of sequence variants in the haemochromatosis ( HFE ) gene. This population screening approach, utilizing a combined heteroduplex and single-strand conformation po...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: de Villiers JN,Hillermann R,Loubser L,Kotze MJ

    更新日期:1999-08-01 00:00:00

  • Sacred disease secrets revealed: the genetics of human epilepsy.

    abstract::Neurons throughout the brain suddenly discharging synchronously and recurrently cause primarily generalized seizures. Discharges localized awhile in one part of the brain cause focal-onset seizures. A genetically determined generalized hyperexcitability had been predicted in primarily generalized seizures, but surpris...

    journal_title:Human molecular genetics

    pub_type: 更正并重新发布的文章,杂志文章,评审


    authors: Turnbull J,Lohi H,Kearney JA,Rouleau GA,Delgado-Escueta AV,Meisler MH,Cossette P,Minassian BA

    更新日期:2005-10-15 00:00:00

  • Decreased turnover of the CNS myelin protein Opalin in a mouse model of hereditary spastic paraplegia 35.

    abstract::Spastic paraplegia 35 (SPG35) (OMIM: 612319) or fatty acid hydroxylase-associated neurodegeneration (FAHN) is caused by deficiency of fatty acid 2-hydroxylase (FA2H). This enzyme synthesizes sphingolipids containing 2-hydroxylated fatty acids, which are particularly abundant in myelin. Fa2h-deficient (Fa2h-/-) mice de...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Hardt R,Jordans S,Winter D,Gieselmann V,Wang-Eckhardt L,Eckhardt M

    更新日期:2021-01-21 00:00:00

  • Phosphorylation of hnRNP K by cyclin-dependent kinase 2 controls cytosolic accumulation of TDP-43.

    abstract::Cytosolic accumulation of TAR DNA binding protein 43 (TDP-43) is a major neuropathological feature of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). However, the mechanisms involved in TDP-43 accumulation remain largely unknown. Previously, we reported that inhibitors of cyclin-depen...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Moujalled D,James JL,Yang S,Zhang K,Duncan C,Moujalled DM,Parker SJ,Caragounis A,Lidgerwood G,Turner BJ,Atkin JD,Grubman A,Liddell JR,Proepper C,Boeckers TM,Kanninen KM,Blair I,Crouch PJ,White AR

    更新日期:2015-03-15 00:00:00