Abstract:
:DiGeorge syndrome is a human developmental disorder resulting in hypoplasia of the thymus and parathyroids, and conotruncal heart defects. We recently isolated four genes with zinc finger DNA binding motifs mapping to chromosome 22q11.2 DiGeorge critical region. We now report that one of them, ZNF74 gene, is hemizygously deleted in 23 out of 24 DiGeorge syndrome patients tested. ZNF74 mRNA transcripts are detected in human and mouse embryos but not in adult tissues. Sequence analysis of a corresponding cDNA reveals an an open reading frame encoding 12 zinc finger motifs of the Kruppel/TFIIIA type as well as N-terminal and C-terminal non-zinc finger domains. These results suggest that changes in the dosage of a putative transcription factor through ZNF74 hemizygous deletion may be critical for DiGeorge developmental anomalies.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Aubry M,Demczuk S,Desmaze C,Aikem M,Aurias A,Julien JP,Rouleau GAdoi
10.1093/hmg/2.10.1583subject
Has Abstractpub_date
1993-10-01 00:00:00pages
1583-7issue
10eissn
0964-6906issn
1460-2083journal_volume
2pub_type
杂志文章abstract::Uterine leiomyomata (UL), also known as fibroids, are the most common pelvic tumors in women of reproductive age and are the primary indication for hysterectomy in the USA. Many lines of evidence indicate a strong genetic component to the development of these tumors. In fact, approximately 40% of UL have non-random, t...
journal_title:Human molecular genetics
pub_type: 杂志文章,评审
doi:10.1093/hmg/ddm043
更新日期:2007-04-15 00:00:00
abstract::Lipocalins are carrier proteins for hydrophobic molecules in many biological fluids. In the oral sphere (nasal mucus, saliva, tears), they have an environmental biosensor function and are involved in the detection of odours and pheromones. Herein, we report the first identification of human lipocalins involved in odor...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/9.2.289
更新日期:2000-01-22 00:00:00
abstract::In human type 1 diabetes (T1D) and in its murine model, the major histocompatibility complex (MHC) class II molecules, human leukocyte antigens (HLA)-DQ and -DR and their murine orthologues, IA and IE, are the major genetic determinants. In this report, we have ranked HLA class II molecule-associated T1D risk in a two...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/10.19.2025
更新日期:2001-09-15 00:00:00
abstract::A vast portion of intellectual disability and autism spectrum disorders is genetically caused by mutations in chromatin modulators. These proteins play key roles in development and are also highly expressed in the adult brain. Specifically, the pivotal role of chromatin regulation in transcription has placed enhancers...
journal_title:Human molecular genetics
pub_type: 杂志文章,评审
doi:10.1093/hmg/ddz196
更新日期:2019-11-21 00:00:00
abstract::Cellular protein homeostasis is achieved by a delicate network of molecular chaperones and various proteolytic processes such as ubiquitin-proteasome system (UPS) to avoid a build-up of misfolded protein aggregates. The latter is a common denominator of neurodegeneration. Neurons are found to be particularly vulnerabl...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddv445
更新日期:2016-01-15 00:00:00
abstract::Human embryo development occurs through a process that encompasses reprogramming, sequential cleavage divisions and mitotic chromosome segregation and embryonic genome activation. Chromosomal abnormalities may arise during germ cell and/or pre-implantation embryo development, and are a major cause of spontaneous misca...
journal_title:Human molecular genetics
pub_type: 杂志文章,评审
doi:10.1093/hmg/ddn170
更新日期:2008-04-15 00:00:00
abstract::Methylmalonic aciduria (MMA) cblB type is caused by mutations in the MMAB gene. This encodes the enzyme ATP:cob(I)alamin adenosyltransferase (ATR), which converts reduced cob(I)alamin to an active adenosylcobalamin cofactor. We recently reported the presence of destabilizing pathogenic mutations that retain some resid...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt217
更新日期:2013-09-15 00:00:00
abstract::Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin along muscle fibers. An attractive therapeutic avenue for DMD consists in the upregulation of utrophin A, a protein with high sequence identity and functional redundancy with dystrophin. Recent work has shown that pharmacological interventions th...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu535
更新日期:2015-03-01 00:00:00
abstract::Dyskeratosis congenita (DC) is a rare genetic syndrome that gives rise to a variety of disorders in affected individuals. Remarkably, all causative gene mutations identified to date share a link to telomere/telomerase biology. We found that the most prevalent dyskerin mutation in DC (A353V) did not affect formation of...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddp551
更新日期:2010-03-01 00:00:00
abstract::Childhood-onset mitochondrial encephalomyopathies are severe, relentlessly progressive conditions. However, reversible infantile respiratory chain deficiency (RIRCD), due to a homoplasmic mt-tRNA(Glu) mutation, and reversible infantile hepatopathy, due to tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRM...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt309
更新日期:2013-11-15 00:00:00
abstract::Myotonic dystrophy (DM) is the most common form of inherited neuromuscular disease in adults and is characterized by progressive muscle wasting and myotonia. The mutation responsible for DM has been identified as the amplification of a polymorphic (CTG)n repeat in the 3' untranslated region of a gene encoding a serine...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/4.6.1063
更新日期:1995-06-01 00:00:00
abstract::Seventeen families with Emery-Dreifuss muscular dystrophy (EDMD) have been studied both by DNA sequencing and by emerin protein expression. Fourteen had mutations in the X-linked emerin gene, while three showed evidence of autosomal inheritance. Twelve of the 14 emerin mutations caused early termination of translation...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/7.5.855
更新日期:1998-05-01 00:00:00
abstract::The short-rib polydactyly syndromes (SRPS) encompass a radiographically and genetically heterogeneous group of skeletal ciliopathies that are characterized by a long narrow chest, short extremities, and variable occurrence of polydactyly. Radiographic abnormalities include undermineralization of the calvarium, shorten...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddw241
更新日期:2016-09-15 00:00:00
abstract::Most quantitative trait loci (QTL) studies have focused on detecting the genetic effects of individual QTLs. This study thoroughly dissected the genetic components of type 2 diabetic mice, including a search for epistatic interactions and multi-locus additive effects that result in variation in diabetes-related phenot...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddi433
更新日期:2006-01-01 00:00:00
abstract::Blood levels of adiponectin, an adipocyte-secreted protein correlated with metabolic and cardiovascular risks, are highly heritable. Genome-wide association (GWA) studies for adiponectin levels have identified 14 loci harboring variants associated with blood levels of adiponectin. To identify novel adiponectin-associa...
journal_title:Human molecular genetics
pub_type: 杂志文章,meta分析
doi:10.1093/hmg/ddt488
更新日期:2014-02-15 00:00:00
abstract::Parkinson's disease (PD) is a severe neurological disorder, characterized by the progressive degeneration of the dopaminergic nigrostriatal pathway and the presence of Lewy bodies (LBs). The discovery of genes responsible for familial forms of the disease has provided insights into its pathogenesis. Mutations in the p...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddg159
更新日期:2003-06-15 00:00:00
abstract::Nebulin is a large skeletal muscle protein wound around the thin filaments, with its C-terminus embedded within the Z-disk and its N-terminus extending out toward the thin filament pointed end. While nebulin's C-terminus has been implicated in both sarcomeric structure and function as well as the development of nemali...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddz016
更新日期:2019-05-15 00:00:00
abstract::To maintain the female reproductive lifespan, the majority of ovarian primordial follicles are preserved in a quiescent state in order to provide ova for later reproductive life. However, the molecular mechanism that maintains the long quiescence of primordial follicles is poorly understood. Here we provide genetic ev...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddp483
更新日期:2010-02-01 00:00:00
abstract::We describe a method for rapid identification of chromosomes at metaphase, and quantification of chromosomes in interphase, by annealing oligonucleotide primers, derived from chromosome-specific subsets of repeated DNA families, to the DNA of cytological preparations, and enzymatic extension with the incorporation of ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/3.6.931
更新日期:1994-06-01 00:00:00
abstract::Duchenne muscular dystrophy (DMD) is a lethal muscle wasting disorder caused by mutations in the DMD gene that leads to the absence or severe reduction of dystrophin protein in muscle. The mdx mouse, also dystrophin deficient, is the model most widely used to study the pathology and test potential therapies, but the p...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddz266
更新日期:2020-02-01 00:00:00
abstract::The 17 genes of the T-box family are transcriptional regulators that are involved in all stages of embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many of the T-box genes. For example, haploinsufficiency of TBX1 is responsible for many...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddy146
更新日期:2018-07-15 00:00:00
abstract::The aim of this study was to investigate whether single nucleotide polymorphisms (SNPs) in the regulatory regions of the apolipoprotein E (APOE) gene modify the well-established epsilon4-associated risk for Alzheimer's disease (AD). Sequencing of the APOE gene regulatory regions revealed four previously reported promo...
journal_title:Human molecular genetics
pub_type: 杂志文章,多中心研究
doi:10.1093/hmg/ddm171
更新日期:2007-09-15 00:00:00
abstract::Fragile X syndrome, a common cause of intellectual disability and autism, is due to mutational silencing of the FMR1 gene leading to the absence of its gene product, fragile X mental retardation protein (FMRP). FMRP is a selective RNA binding protein owing to two central K-homology domains and a C-terminal arginine-gl...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu586
更新日期:2015-03-15 00:00:00
abstract::The rate-limiting step of dietary calcium absorption in the intestine requires the brush border calcium entry channel TRPV6. The TRPV6 gene was completely sequenced in 170 renal calcium stone patients. The frequency of an ancestral TRPV6 haplotype consisting of three non-synonymous polymorphisms (C157R, M378V, M681T) ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddn048
更新日期:2008-06-01 00:00:00
abstract::Polyglutamine expansions in the huntingtin gene cause Huntington's disease (HD). Huntingtin is ubiquitously expressed, leading to pathological alterations also in peripheral organs. Variations in the length of the polyglutamine tract explain up to 70% of the age-at-onset variance, with the rest of the variance attribu...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddy077
更新日期:2018-05-15 00:00:00
abstract::An unresolved issue about many neurodegenerative diseases is why neurons are particularly sensitive to defects in ubiquitous cellular processes. One example is Niemann Pick type C1, caused by defects in cholesterol trafficking in all cells, but where neurons are preferentially damaged. Understanding this selective fai...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/dds090
更新日期:2012-06-15 00:00:00
abstract::Despite the immense significance retrotransposons have had for genome evolution much about their biology is unknown, including the processes of forming their ribonucleoprotein (RNP) particles and transporting them about the cell. Suppression of retrotransposon expression, together with the presence of retrotransposon ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddq048
更新日期:2010-05-01 00:00:00
abstract::We have cloned, sequenced and annotated segments of DNA spanning the mouse, chicken and pufferfish alpha globin gene clusters and compared them with the corresponding region in man. This has defined a small segment ( approximately 135-155 kb) of synteny and conserved gene order, which may contain all of the elements r...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/10.4.371
更新日期:2001-02-15 00:00:00
abstract::Human chromosome 15q11-13 is a complex locus containing imprinted genes as well as a cluster of three GABA(A) receptor subunit (GABR) genes-GABRB3, GABRA5 and GABRG3. Deletion or duplication of 15q11-13 GABR genes occurs in multiple human neurodevelopmental disorders including Prader-Willi syndrome (PWS), Angelman syn...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddm014
更新日期:2007-03-15 00:00:00
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
doi:10.1093/hmg/dds099
更新日期:2012-06-15 00:00:00