Abstract:
:Degenerate primer pairs that include consensus sequences of evolutionary conserved portions of protein families (BLOCKs or ancient conserved regions) can be used to screen by polymerase chain reaction (PCR) for cognate cDNAs and YACs through much of phylogeny. Nine such primer pairs were developed, and five with sites on human chromosomes 7 or X were shown to identify YACs from chromosome-specific locations, including a candidate for a new zinc finger gene in Xq28. When linked to contig-based genomic maps, such BLOCK-based PCR assays may provide a route to recover the members and study the development of families containing up to 40% of genes, in genomes as diverse as humans, nematodes, and yeast.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
D'Esposito M,Pilia G,Schlessinger Ddoi
10.1093/hmg/3.5.735subject
Has Abstractpub_date
1994-05-01 00:00:00pages
735-40issue
5eissn
0964-6906issn
1460-2083journal_volume
3pub_type
杂志文章abstract::Genetic studies have implicated the neuronal ubiquitin C-terminal hydrolase (UCH) protein UCH-L1 in Parkinson's disease (PD) pathogenesis. Moreover, the function of UCH-L1 may be lost in the brains of PD and Alzheimer's disease patients. We have previously reported that the UCH-L1 polymorphic variant S18Y, potentially...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddr521
更新日期:2012-02-15 00:00:00
abstract::Neurofibromatosis type 1 (NF1) is a common genetic disorder affecting 1 in 3500 individuals. Patients with NF1 are predisposed to debilitating skeletal manifestations, including osteopenia/osteoporosis and long bone pseudarthrosis (nonunion fracture). Hyperactivation of the Ras/mitogen-activated protein kinase (MAPK) ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt333
更新日期:2013-12-01 00:00:00
abstract::DNA replication is a critical step for cells because of the propensity of replication forks to stall, as a consequence either of endogenous DNA damage or of the propensity of repeated sequences to form tertiary structures, which can impede fork progression. Moreover, as a result of stalled replication fork processing,...
journal_title:Human molecular genetics
pub_type: 杂志文章,评审
doi:10.1093/hmg/11.20.2447
更新日期:2002-10-01 00:00:00
abstract::Malignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder of skeletal muscle which manifests as a life-threatening hypermetabolic crisis triggered by commonly-used inhalation anaesthetics and depolarizing muscle relaxants. Defects in the ryanodine receptor (RYR1) protein have been proposed to under...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/2.7.863
更新日期:1993-07-01 00:00:00
abstract::Missing teeth (hypodontia and oligodontia) are a common developmental abnormality in humans and heterozygous mutations of PAX9 have recently been shown to underlie a number of familial, non-syndromic cases. Whereas PAX9 haploinsufficiency has been suggested as the underlying genetic mechanism, it is not known how this...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddi388
更新日期:2005-12-01 00:00:00
abstract::An intronic GGGGCC (G4C2) hexanucleotide repeat expansion inC9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Repeat-associated non-AUG (RAN) translation of G4C2 RNA can result in five different dipeptide repeat proteins (DPR: poly GA, poly GP, poly GR, ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddx350
更新日期:2017-12-15 00:00:00
abstract::TMEM70, a 21-kDa protein localized in the inner mitochondrial membrane, has been shown to facilitate the biogenesis of mammalian F1Fo ATP synthase. Mutations of the TMEM70 gene represent the most frequent cause of isolated ATP synthase deficiency resulting in a severe mitochondrial disease presenting as neonatal encep...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddw295
更新日期:2016-11-01 00:00:00
abstract::Expanded glutamine repeats of the ataxin-2 (ATXN2) protein cause spinocerebellar ataxia type 2 (SCA2), a rare neurodegenerative disorder. More recent studies have suggested that expanded ATXN2 repeats are a genetic risk factor for amyotrophic lateral sclerosis (ALS) via an RNA-dependent interaction with TDP-43. Given ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddr227
更新日期:2011-08-15 00:00:00
abstract::We have studied the dynamics of mitochondrial DNA maintenance and segregation in human cells using serial cybrid transfer of partially duplicated mitochondrial DNA, from a mitochondrial myopathy patient, to two distinct recipient cell types. The results indicate two radically different outcomes dependent upon nuclear ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/6.8.1251
更新日期:1997-08-01 00:00:00
abstract::Although studies over the last decades have firmly connected a number of genes and molecular pathways to aging, the aging process as a whole still remains poorly understood. To gain novel insights into the mechanisms underlying aging, instead of considering aging genes individually, we studied their characteristics at...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddw145
更新日期:2016-07-15 00:00:00
abstract::Exon shuffling is thought to be an important mechanism for evolution of new genes. Here we show that the mouse neurological mutation flailer (flr) expresses a novel gene that combines the promoter and first two exons of guanine nucleotide binding protein beta 5 (Gnb5) with the C-terminal exons of the closely linked My...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/9.5.821
更新日期:2000-03-22 00:00:00
abstract::Inherited defects in the X-chromosomal adrenoleukodystrophy (ALD; ABCD1) gene are the genetic cause of the severe neurodegenerative disorder X-linked adrenoleukodystrophy (X-ALD). Biochemically the accumulation of very long-chain fatty acids, caused by impaired peroxisomal beta-oxidation, is the pathognomonic characte...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/9.18.2609
更新日期:2000-11-01 00:00:00
abstract::Neurofibromatosis type 1 (NF1) is a common inherited cancer predisposition syndrome. The NF1 gene product, neurofibromin, is hypothesized to function as a tumor suppressor and nearly all NF1 patients develop benign peripheral nerve tumors. These neurofibromas presumably arise from NF1 inactivation in S100(+)Schwann ce...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/9.7.1059
更新日期:2000-04-12 00:00:00
abstract::Facioscapulohumeral muscular dystrophy (FSHD) is an incurable disorder linked to ectopic expression of DUX4. However, DUX4 is notoriously difficult to detect in FSHD muscle cells, while DUX4 target gene expression is an inconsistent biomarker for FSHD skeletal muscle biopsies, displaying efficacy only on pathologicall...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddaa053
更新日期:2020-08-11 00:00:00
abstract::Cone photoreceptors (cones) are essential for high-resolution daylight vision and colour perception. Loss of cones in hereditary retinal diseases has a dramatic impact on human vision. The mechanisms underlying cone death are poorly understood, and consequently, there are no treatments available. Previous studies sugg...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddw219
更新日期:2016-09-01 00:00:00
abstract::Many congenital myasthenic syndromes (CMS) are associated with mutations in the genes encoding the acetylcholine receptor (AChR), an oligomeric protein with the structure alpha(2)betadelta epsilon. AChR deficiency is frequently due to homozygous or heteroallelic mutations in the AChR epsilon subunit, most of which cau...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/11.24.3087
更新日期:2002-11-15 00:00:00
abstract::Mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 (TBC1D24) gene are associated with a range of inherited neurological disorders, from drug-refractory lethal epileptic encephalopathy and DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, seizures) to non-syndromic hearing loss...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddy370
更新日期:2019-02-15 00:00:00
abstract::This study provides first insights into the biosynthesis, structure, biochemistry and complex processing of the proteins encoded by hNOT/ALG3, the human counterpart of the Drosophila Neighbour of TID (NOT) and the yeast asparagine linked glycosylation 3 gene (ALG3), which encodes a mannosyltransferase. Unambiguous evi...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddy315
更新日期:2018-12-15 00:00:00
abstract::To understand the cause of Parkinson's disease (PD), it is important to determine the functional interactions between factors linked to the disease. Parkin is associated with autosomal recessive early-onset PD, and controls the transcription of PGC-1α, a master regulator of mitochondrial biogenesis. These two factors ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddw418
更新日期:2017-02-01 00:00:00
abstract::Niemann-Pick C1 (NPC1) disease is a rare, neurodegenerative lysosomal cholesterol storage disorder, typified by progressive cognitive and motor function impairment. Affected individuals usually succumb to the disease in adolescence. 2-Hydroxypropyl-β-cyclodextrin (HP-β-CD) has emerged as a promising intervention that ...
journal_title:Human molecular genetics
pub_type: 临床试验,杂志文章
doi:10.1093/hmg/ddu331
更新日期:2014-11-15 00:00:00
abstract::The X-linked retinitis pigmentosa protein RP2 is a GTPase activating protein (GAP) for the small GTPase Arl3 and both proteins are implicated in the traffic of proteins to the primary cilia. Here, we show that RP2 can facilitate the traffic of the Gβ subunit of transducin (Gβ1). Glutathione S-transferase (GST)-RP2 pul...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddr520
更新日期:2012-02-15 00:00:00
abstract::A long-term goal of modeling Huntington's disease (HD) is to recapitulate the cardinal features of the disease in mice that express both mutant and wild-type (WT) huntingtin (Htt), as HD commonly manifests as a heterozygous condition in humans, and loss of WT Htt is associated with loss-of-function. In a new heterozyg...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu166
更新日期:2014-09-01 00:00:00
abstract::Parkin E3 ubiquitin-ligase activity and its role in mitochondria homeostasis are thought to play a role in Parkinson's disease (PD). We now report that AF-6 is a novel parkin interacting protein that modulates parkin ubiquitin-ligase activity and mitochondrial roles. Parkin interacts with the AF-6 PDZ region through i...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt058
更新日期:2013-05-15 00:00:00
abstract::The adaptor protein-2 sigma subunit (AP2σ2) is pivotal for clathrin-mediated endocytosis of plasma membrane constituents such as the calcium-sensing receptor (CaSR). Mutations of the AP2σ2 Arg15 residue result in familial hypocalciuric hypercalcaemia type 3 (FHH3), a disorder of extracellular calcium (Ca(2+) o) homeos...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddv226
更新日期:2015-09-15 00:00:00
abstract::A candidate gene for X-linked adrenoleukodystrophy (ALD) has been identified via positional cloning strategies. We now report messenger RNA expression in fibroblasts from 6 unrelated ALD patients. Four patients lacked the normal 4.2 kb transcript, three of them having deletions of the ALD gene. A fifth patient with a ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/2.11.1949
更新日期:1993-11-01 00:00:00
abstract::Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by a combination of pigmentary and auditory abnormalities. Approximately 20% of WS2 cases are associated with mutations in the gene encoding microphthalmia-associated transcription factor (MITF). MITF plays a critical role in the develop...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/8.8.1431
更新日期:1999-08-01 00:00:00
abstract::Dominant mutations in the gene encoding the ubiquitously-expressed splicing factor PRPF31 cause retinitis pigmentosa, a form of hereditary retinal degeneration, with reduced penetrance. We and others have previously shown that penetrance is tightly correlated with PRPF31 expression, as lymphoblastoid cell lines (LCLs)...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddn212
更新日期:2008-10-15 00:00:00
abstract::The huntingtin interacting protein (HIP1) is enriched in membrane-containing cell fractions and has been implicated in vesicle trafficking. It is a multidomain protein containing an N-terminal ENTH domain, a central coiled-coil forming region and a C-terminal actin-binding domain. In the present study we have identifi...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/10.17.1807
更新日期:2001-08-15 00:00:00
abstract::Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting carriers of the fragile X-premutation, who have an expanded CGG repeat in the 5'-UTR of the FMR1 gene. FXTAS is characterized by progressive development of intention tremor, ataxia, parkinsonism and neuropsychologi...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddv216
更新日期:2015-09-01 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