Abstract:
:GTF2IRD1 is one of the three members of the GTF2I gene family, clustered on chromosome 7 within a 1.8 Mb region that is prone to duplications and deletions in humans. Hemizygous deletions cause Williams-Beuren syndrome (WBS) and duplications cause WBS duplication syndrome. These copy number variations disturb a variety of developmental systems and neurological functions. Human mapping data and analyses of knockout mice show that GTF2IRD1 and GTF2I underpin the craniofacial abnormalities, mental retardation, visuospatial deficits and hypersociability of WBS. However, the cellular role of the GTF2IRD1 protein is poorly understood due to its very low abundance and a paucity of reagents. Here, for the first time, we show that endogenous GTF2IRD1 has a punctate pattern in the nuclei of cultured human cell lines and neurons. To probe the functional relationships of GTF2IRD1 in an unbiased manner, yeast two-hybrid libraries were screened, isolating 38 novel interaction partners, which were validated in mammalian cell lines. These relationships illustrate GTF2IRD1 function, as the isolated partners are mostly involved in chromatin modification and transcriptional regulation, whilst others indicate an unexpected role in connection with the primary cilium. Mapping of the sites of protein interaction also indicates key features regarding the evolution of the GTF2IRD1 protein. These data provide a visual and molecular basis for GTF2IRD1 nuclear function that will lead to an understanding of its role in brain, behaviour and human disease.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Carmona-Mora P,Widagdo J,Tomasetig F,Canales CP,Cha Y,Lee W,Alshawaf A,Dottori M,Whan RM,Hardeman EC,Palmer SJdoi
10.1007/s00439-015-1591-0subject
Has Abstractpub_date
2015-10-01 00:00:00pages
1099-115issue
10eissn
0340-6717issn
1432-1203pii
10.1007/s00439-015-1591-0journal_volume
134pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Interspersed simple repetitive DNA is a convenient genetic marker for analysis of restriction fragment length polymorphisms (RFLPs) because of the numbers and the frequencies of its alleles. Oligonucleotide probes specific for variations of the GATCA simple repeats have been designed and hybridized to a panel of human...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282541
更新日期:1986-11-01 00:00:00
abstract::Osteopetrosis is a heterogeneous group of inherited disorders that includes a malignant autosomal recessive form, an intermediate autosomal recessive form and autosomal dominant forms of the disease. Most malignant osteopetroses have been ascribed to mutations in the OC116 gene encoding the human a3 subunit of vacuola...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0861-9
更新日期:2003-02-01 00:00:00
abstract::Deletion and truncation mutations in the X-linked gene CASK are associated with severe intellectual disability (ID), microcephaly and pontine and cerebellar hypoplasia in girls (MICPCH). The molecular origin of CASK-linked MICPCH is presumed to be due to disruption of the CASK-Tbr-1 interaction. This hypothesis, howev...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1874-3
更新日期:2018-03-01 00:00:00
abstract::Esterase D was quantitatively measured in the red blood cells from three patients from three separate kindreds who had abnormalities of chromosome 13. The esterase D activity was proportional to the number of copies of the q14 region of chromosome 13 present. These findings confirm published data localizing the estera...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00327114
更新日期:1983-01-01 00:00:00
abstract::The Na+/H+ antiporter is a ubiquitous membrane-associated protein that plays an important role in the regulation of intracellular pH. APNH, a gene encoding the antiporter, has been cloned and mapped to the short arm of chromosome 1 by in situ hybridization. Using the polymerase chain reaction, we have amplified a 376 ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00205179
更新日期:1990-11-01 00:00:00
abstract::Research in the past two decades has generated unequivocal evidence that host genetic variations substantially account for the heterogeneous outcomes following human immunodeficiency virus type 1 (HIV-1) infection. In particular, genes encoding human leukocyte antigens (HLA) have various alleles, haplotypes, or specif...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1465-x
更新日期:2014-09-01 00:00:00
abstract::Multiple sclerosis (MS) is a demyelinating disorder of the central nervous system with putative autoimmune aetiology and complex genetic background. Here, we report the results of a genome screen for linkage disequilibrium (LD) by using 6000 microsatellite markers in 198 HLA-DRB1*15-positive MS patients and 198 unrela...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0801-8
更新日期:2002-09-01 00:00:00
abstract::Five DNA probes known to originate from the region 7q22-q31 were sublocalized by in situ hybridization to metaphase preparations of fibroblasts having besides a normal chromosome 7, a homologue 7 with an apparent interstitial deletion of a large part of band q22. A flow cytometric chromosome analysis confirmed a loss ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00702861
更新日期:1988-10-01 00:00:00
abstract::Thioridazine (Mellaril), a psychotropic drug belonging to the phenothiazine group of drugs, was evaluated for its in vivo clastogenic effect on human chromosomes in lymphocyte cultures. Lymphocyte cultures were set up with peripheral blood samples of psychiatric patients (diagnosis: schizophrenia, mania, manic depress...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00333518
更新日期:1982-01-01 00:00:00
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
更新日期:1979-01-01 00:00:00
abstract::Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders and occurs in its non-classical form in up to 6% of hirsute women. We report on a young woman with the clinical diagnosis of non-classical CAH and a novel, heterozygous missense mutation CTG-->...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1339-3
更新日期:2005-10-01 00:00:00
abstract::By screening 27 hypercalcaemic and 21 normocalcaemic subjects in a large Dutch pedigree with familial benign hypercalcaemia (FBH; McK. No. 14598) (McKusick 1983) for more than 35 genetic markers, it was found that linkage of FBH can be excluded at about 25 centimorgans (cM) from GM, 20 cM from ABO, 15 cM from MNS and ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291409
更新日期:1984-01-01 00:00:00
abstract::Steroid sulfatase activities are significantly higher in placentas obtained after the birth of girls than after the birth of boys, and also in female fibroblasts compared to male strains. This constitutes biochemical evidence for the non-inactivation of the X-linked sulfatase locus. No hydrolytic activity is found in ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283675
更新日期:1981-01-01 00:00:00
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
更新日期:1981-01-01 00:00:00
abstract::Quantitative red cell adenylate kinase (AK-1) assay has been used in 8 patients with partial duplication or deletion of chromosome 9 in an attempt to find the precise intrachromosomal location of the structural gene locus. All regions of chromosome 9 are represented in abnormal dosage in at least one patient. A 43% in...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284432
更新日期:1976-09-10 00:00:00
abstract::We present clinical, cytogenetic, and linkage data of four DNA probes from the terminal long arm of the X chromosome in ten new families with fragile X syndrome. A prior/posterior method of multipoint linkage analysis is employed to combine these results with published data to refine the linkage map of terminal Xq. Te...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284915
更新日期:1987-06-01 00:00:00
abstract::Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3). This frequently occurs as a new mutation, manifes...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-004-1151-5
更新日期:2004-08-01 00:00:00
abstract::Ninety-six alleles (36 alleles of Japanese and 60 of Caucasian origin) from forty-eight patients with mucopolysaccharidosis IVA were investigated for structural gene alterations using Southern blot analysis. All patients had a previously demonstrated deficiency of N-acetyl-galactosamine-6-sulfate-sulfatase and exhibit...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00208958
更新日期:1995-04-01 00:00:00
abstract::In situ hybridization using a probe specific for the human ZFX and ZFY loci assigns the ZFX gene to Xp21.3 and the ZFY gene to Yp11.32. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00288279
更新日期:1989-04-01 00:00:00
abstract::Chromosomal analysis from aborted tissue has become an important diagnostic aid. However, the necessary cultures are frequently unsuccessful due to the condition of the aborted tissue. Polyploidy, in particular triploidy, in the conceptus is a common cause of early pregnancy loss and unlike aneuploidy does not appear ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00393612
更新日期:1977-07-26 00:00:00
abstract::We identified two additional mutations in the ferrochelatase gene in two Swiss patients with erythropoietic protoporphyria (EPP). Ferrochelatase cDNA from patients was amplified by the polymerase chain reaction (PCR) and subjected to mutation analysis by sequencing PCR products either directly or after subcloning. The...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201578
更新日期:1994-06-01 00:00:00
abstract::Given that a large number of candidate genes coding for a tendency toward obesity have been identified and some findings have been replicated, we explored characteristics of those who would be most likely to obtain future genetic testing for this tendency. During a series of focus groups, obese respondents rated their...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0252-8
更新日期:2007-01-01 00:00:00
abstract::Two cases of a pericentric inversion of chromosome 2 were found amongst 3619 blood specimens referred for karyotypic analysis. An additional three cases were identified within 1820 pregnancies presenting for genetic amniocentesis because of late maternal age. The implications for management in these cases are discusse...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293042
更新日期:1985-01-01 00:00:00
abstract::Using a heteroduplex approach and direct sequencing, we have completed the screening of approximately 88% of the neurofibromatosis type 2 (NF2)-coding sequence of DNA extracted from 33 schwannomas from NF2 patients and from 29 patients with sporadic schwannomas. The extensive screening has resulted in the identificati...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050188
更新日期:1996-08-01 00:00:00
abstract::The future holds the possibility to link and network biobanks, existing biorepositories and reference databases for research purposes in ways that have not been possible before. There is the potential to develop 'research portals' that will enable researchers to access these research resources that are located around ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1063-0
更新日期:2011-09-01 00:00:00
abstract::A population study of Gd- allele distribution was made in similar (age-sex) samples of schoolchildren and students from different ethnic groups: Russians, Ashkenazi Jews, and Azerbaijanians. Both the frequency and the spectrum of the Gd- alleles were quite different. The Gd- frequency in Russians (Kostroma region) was...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00281070
更新日期:1987-03-01 00:00:00
abstract::A specific enzyme immunoassay of uroporphyrinogen decarboxylase was developed and applied to the detection of the human enzyme in man-rodent somatic cell hybrids. This method allowed to assign the gene for uroporphyrinogen decarboxylase to human chromosome 1. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286601
更新日期:1984-01-01 00:00:00
abstract::The activity of complex I of the mitochondrial respiratory chain has been found to be decreased in patients with Parkinson's disease (PD), but no mutations have been identified in genes encoding complex I subunits. Recent studies have suggested that polymorphisms in mitochondrial DNA (mtDNA)-encoded complex I genes (M...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-004-1123-9
更新日期:2004-06-01 00:00:00
abstract::Three patients with 45,X/46,XYnf mosaicism were investigated by Southern hybridization using both X- and Y-specific DNA probes. Our patients seem to be hemizygous for the X chromosomal loci tested. Single-copy and low-copy repeated Y chromosomal sequences assigned to the short arm, centromere, and euchromatin of the l...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284913
更新日期:1987-06-01 00:00:00
abstract::Thymidylate synthase (TYMS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) may compete for their common cofactor 5,10-methylenetetrahyhdrofolate (5,10-meTHF). Limiting 5,10-meTHF results in elevated homocysteine, especially in individuals homozygous for the T allele of the MTHFR C677T polymorphism. The TYMS gene...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-1039-9
更新日期:2004-01-01 00:00:00