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1.
F. R. Vargas E. Roessler Karin Gaudenz E. Belloni Alexander S. Whitehead Peader N. Kirke James L. Mills George Hooper Roger E. Stevenson Isabel Cordeiro Patricia Correia Temis Felix Rani Gereige Michael L. Cunningham Sonia Canún Stylianos E. Antonarakis Tom Strachan Lap-Chee Tsui Stephen W. Scherer M. Muenke 《Human genetics》1998,102(4):387-392
2.
Merello E De Marco P Mascelli S Raso A Calevo MG Torre M Cama A Lerone M Martucciello G Capra V 《Birth defects research. Part A, Clinical and molecular teratology》2006,76(3):205-209
BACKGROUND: Caudal regression syndrome (CRS) is a congenital heterogeneous constellation of caudal anomalies that include varying degrees of agenesis of the spinal column, anorectal malformations (ARMs), genitourinary anomalies, and pulmonary hypoplasia. The combination of a particular form of hemisacrum, ARM, and presacral mass (teratoma, anterior meningocele, rectal duplication, or a combination thereof) constitutes Currarino syndrome (CS). Previous reports have shown HLXB9 to be a major causative gene for CS. The aim of our study was to reevaluate the involvement of the HLXB9 gene in a larger group of CRS cases. METHODS: SSCP analysis was performed on a series of 48 CRS cases without CS. A case-control approach was used to test whether an alteration of the length of the GCC triplets in exon 1 of the HLXB9 gene could contribute to CRS risk. RESULTS: No pathological variants of the HLXB9 gene were identified by mutational analysis. We also found no evidence that the length of the GCC triplets had any effect on the CRS risk, even when the allelic frequencies were stratified according to the presence or absence of ARMs and the type of sacral agenesis. CONCLUSIONS: We confirmed that the HLXB9 gene is not involved in the pathogenesis of CRS, and to date is known as a causative gene only for CS. 相似文献
3.
4.
Samer Singh Robert Tokhunts Valerie Baubet John A. Goetz Zhen Jane Huang Neal S. Schilling Kendall E. Black Todd A. MacKenzie Nadia Dahmane David J. Robbins 《Human genetics》2009,125(1):95-103
Sonic hedgehog (SHH) plays an important instructional role in vertebrate development, as exemplified by the numerous developmental
disorders that occur when the SHH pathway is disrupted. Mutations in the SHH gene are the most common cause of sporadic and inherited holoprosencephaly (HPE), a developmental disorder that is characterized
by defective prosencephalon development. SHH HPE mutations provide a unique opportunity to better understand SHH biogenesis and signaling, and to decipher its role in
the development of HPE. Here, we analyzed a panel of SHH HPE missense mutations that encode changes in the amino-terminal active domain of SHH. Our results show that SHH HPE mutations affect SHH biogenesis and signaling at multiple steps, which broadly results in low levels of protein expression,
defective processing of SHH into its active form and protein with reduced activity. Additionally, we found that some inactive
SHH proteins were able to modulate the activity of wt SHH in a dominant negative manner, both in vitro and in vivo. These
findings show for the first time the susceptibility of SHH driven developmental processes to perturbations by low-activity
forms of SHH. In conclusion, we demonstrate that SHH mutations found in HPE patients affect distinct steps of SHH biogenesis to attenuate SHH activity to different levels, and
suggest that these variable levels of SHH activity might contribute to some of the phenotypic variation found in HPE patients.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users.
S. Singh, R. Tokhunts and V. Baubet contributed equally to this work. 相似文献
5.
No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations
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Charlotte H.W. Wijers Ivo de Blaauw Nadine Zwink Markus Draaken Loes F.M. van der Zanden Han G. Brunner Alice S. Brooks Robert M. Hofstra Cornelius E.J. Sloots Paul M.A. Broens Marc H. Wijnen Michael Ludwig Ekkehart Jenetzky Heiko Reutter Carlo L.M. Marcelis Nel Roeleveld Iris A.L.M. van Rooij 《Birth defects research. Part A, Clinical and molecular teratology》2014,100(6):483-492
Background: Both genetic and nongenetic factors are suggested to be involved in the etiology of congenital anorectal malformations (ARM). Maternal periconceptional use of folic acid supplements were inconsistently suggested to play a role in the prevention of ARM. Therefore, we investigated independent associations and interactions of maternal periconceptional folic acid supplement use and the infant and maternal MTHFR (methylenetetrahydrofolate reductase) C677T polymorphisms with the risk of ARM and subgroups of ARM. Methods: A case–control study was conducted among 371 nonsyndromic ARM cases and 714 population‐based controls born between 1990 and 2012 using maternal questionnaires and DNA samples from mother and child. Cases were treated for ARM at departments of Pediatric Surgery of the Radboud university medical center, Sophia Children's Hospital‐Erasmus MC Rotterdam, and the University Medical Center Groningen in The Netherlands and hospitals throughout Germany. Results: No association with folic acid use was present (odds ratio = 1.1; 95% confidence interval: 0.8–1.4) for ARM as a group. Infant and maternal MTHFR C677T polymorphisms were weakly associated with isolated ARM in particular. Lack of folic acid supplement use in combination with infants or mothers carrying the MTHFR C677T polymorphism did not seem to increase the risk of ARM or subgroups of ARM. The relative excess risks due to interaction did not clearly indicate interaction on an additive scale either. Conclusion: This first study investigating interactions between periconceptional folic acid supplement use and infant and maternal MTHFR C677T polymorphisms in the etiology of ARM did not provide evidence for a role of this gene–environment interaction. Birth Defects Research (Part A) 100:483–492, 2014. © 2014 Wiley Periodicals, Inc. 相似文献
6.
《遗传学报》2023,50(1):27-37
Sonic hedgehog (SHH) signaling is a key regulator of embryonic development and tissue homeostasis that is involved in gastrointestinal (GI) cancer progression. Regulation of SHH gene expression is a paradigm of long-range enhancer function. Using the classical chemotherapy drug 5-fluorouracil (5FU) as an example, here we show that SHH gene expression is suppressed by chemotherapy. SHH is downstream of immediate early genes (IEGs), including Early growth response 1 (Egr1). A specific 139 kb upstream enhancer is responsible for its down-regulation. Knocking down EGR1 expression or blocking its binding to this enhancer renders SHH unresponsive to chemotherapy. We further demonstrate that down-regulation of SHH expression does not depend on 5FU's impact on nucleotide metabolism or DNA damage; rather, a sustained oxidative stress response mediates this rapid suppression. This enhancer is present in a wide range of tumors and normal tissues, thus providing a target for cancer chemotherapy and its adverse effects on normal tissues. We propose that SHH is a stress-responsive gene downstream of IEGs, and that traditional chemotherapy targets a specific enhancer to suppress its expression. 相似文献
7.
Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes 总被引:2,自引:0,他引:2
Bendavid C Dubourg C Gicquel I Pasquier L Saugier-Veber P Durou MR Jaillard S Frébourg T Haddad BR Henry C Odent S David V 《Human genetics》2006,119(1-2):1-8
Holoprosencephaly (HPE), the most common structural malformation of the forebrain in humans, can be detected early during
pregnancy using prenatal ultrasonography . Among foetuses with a normal karyotype, 14% have mutations in the four main HPE
genes (SHH, ZIC2, SIX3 and TGIF). Genomic rearrangements have now been implicated in many genetic diseases, so we hypothesized that microdeletions in the
major HPE genes may also be common in HPE foetuses with severe phenotype or other associated malformations. We screened the
DNA obtained from 94 HPE foetuses with a normal karyotype for the presence of microdeletions involving the four major HPE
genes (SHH, ZIC2, SIX3 and TGIF). Thirteen of the foetuses had a point mutation in one of the 4 genes and 81 had no known mutations. Quantitative multiplex
PCR of short fluorescent fragments (QMPSF) analysis was used for rapid determination of HPE genes copy numbers and the identified
microdeletions were confirmed by real time quantitative PCR, or fluorescent in situ hybridization (FISH) (if a cell line was
available). Microdeletions were detected in 8 of 94 foetuses (8.5%) (2 in SHH, 2 in SIX3, 3 in ZIC2 and 1 in TGIF genes), and only among the 81 foetuses with a normal karyotype and no point mutations. These data suggest that microdeletions
in the four main HPE genes are a common cause of prenatal HPE, as well as point mutations, and increase the total diagnosis
rate close to ≈22.3% of foetuses with normal karyotype. Detection can be achieved by the QMPSF testing method that proved
to be efficient for testing several genes in a single assay.
Databases: SHH - OMIM: 600725; GenBank: NM_000193.2, ZIC2 - OMIM: 603073; GenBank: AF104902.1, SIX3 - OMIM: 603714; GenBank: NM_005413.1, TGIF - OMIM: 602630; GenBank: NM_003244.2, On-line Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/omim/, UCSC
(http://www.genome.ucsc.edu/), Ensembl (http://www.ensembl.org/), Database of genomic variants (http://projects.tcag.ca/variation/genomeView.html) 相似文献
8.
Genome‐wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities
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Gabriel C. Dworschak Markus Draaken Alina C. Hilger Charlotte Schramm Enrika Bartels Eberhard Schmiedeke Sabine Grasshoff‐Derr Stefanie Märzheuser Stefan Holland‐Cunz Martin Lacher Ekkehart Jenetzky Nadine Zwink Dominik Schmidt Markus M. Nöthen Michael Ludwig Heiko Reutter 《Birth defects research. Part A, Clinical and molecular teratology》2015,103(4):235-242
Background: Anorectal malformations (ARM) have a prevalence of around 1 in 2500 live births. In around 50% of patients, the malformation is isolated, while in the remainder it arises within the context of complex genetic abnormalities or a defined genetic syndrome. Recent studies have implicated rare copy number variations (CNVs) in both isolated and nonisolated ARM, and identified plausible candidate genes. Methods: In the present study, array‐based molecular karyotyping was performed to identify causative CNVs in 32 sporadic ARM patients with comorbid abnormalities of the central nervous system (CNS). This phenotype was selected to enrich for rare CNVs, since previous research has implicated rare CNVs in both CNS abnormalities and ARM. Results: In five patients, a probable disease‐causing CNV was identified (del6q14.3q16.3, del14q32.2, del17q12q21.2, and two patients with del22q11.21). In three of these patients, the CNVs were de novo. For the remaining two patients, no parental DNA was available. Deletions at 22q11.21 and 6q14.3 have been associated with both CNS abnormalities and ARM. In contrast, deletions at 14q32.2 have only been described in patients with CNS abnormalities, and the del17q12q21.2 is a novel CNV. Expression studies in mice suggest that NEUROD2 and RARA, which reside within the newly identified del17q12q21.2 region, are candidate genes for the formation of microcephaly and ARM. Conclusion: The present data suggest that CNVs are a frequent cause of the ARM with CNS abnormalities phenotype, and that array‐analysis is indicated in such patients. Birth Defects Research (Part A) 103:235–242, 2015. © 2014 Wiley Periodicals, Inc. 相似文献
9.
Localization of a novel recessive powdery mildew resistance gene from common wheat line RD30 in the terminal region of chromosome 7AL 总被引:4,自引:0,他引:4
Singrün Ch Hsam SL Zeller FJ Wenzel G Mohler V 《TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik》2004,109(1):210-214
Segregation analysis of resistance to powdery mildew in a F2 progeny from the cross Chinese Spring (CS) × TA2682c revealed the inheritance of a dominant and a recessive powdery mildew resistance gene. Selfing of susceptible F2 individuals allowed the establishment of a mapping population segregating exclusively for the recessive resistance gene. The extracted resistant derivative showing full resistance to each of 11 wheat powdery mildew isolates was designated RD30. Amplified fragment length polymorphism (AFLP) analysis of bulked segregants from F3s showing the homozygous susceptible and resistant phenotypes revealed an AFLP marker that was associated with the recessive resistance gene in repulsion phase. Following the assignment of this AFLP marker to wheat chromosome 7A by means of CS nullitetrasomics, an inspection of simple sequence repeat (SSR) loci evenly spaced along chromosome 7A showed that the recessive resistance gene maps to the distal region of chromosome 7AL. On the basis of its close linkage to the Pm1 locus, as inferred from connecting partial genetic maps of 7AL of populations CS × TA2682c and CS × Virest (Pm1e), and its unique disease response pattern, the recessive resistance gene in RD30 was considered to be novel and tentatively designated mlRD30.Communicated by C. Möllers 相似文献
10.
Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22 总被引:1,自引:0,他引:1
den Hollander AI van der Velde-Visser SD Pinckers AJ Hoyng CB Brunner HG Cremers FP 《Human genetics》1999,104(1):73-76
Linkage analysis was performed on a large Dutch family with autosomal dominant retinitis pigmentosa. Linkage was found to
the RP17 locus on chromosome 17q22, which was previously described in two South African families by Bardien et al. (1995,
1997). Assuming that the disease phenotypes in these families are caused by the same gene, the RP17 critical region is refined
to a 7.7-cM interval between markers D17S1607 and D17S948. Two positional candidate genes, the retina-specific amine oxidase
(RAO) gene (AOC2) and the cone transducin γ gene (GNGT2), were excluded.
Received: 7 September 1998 / Accepted: 23 November 1998 相似文献
11.
The ribulose-1,5-bisphosphate carboxylase/ oxygenase (Rubisco) large subunit (LS)
ɛ
N-methyltransferase (Rubisco LSMT) catalyzes post-translational methylation of the ɛ-amino group of lysine-14 in the LS of Rubisco. The entire nucleotide sequence for the tobacco (Nicotiana tabacum) Rubisco LSMT (rbcMT-T) gene including the putative promoter region was recently reported, and sequence analysis of the promoter
region revealed seven GT-1 motifs. The ability of several truncated rbcMT-T promoter fragments to confer light responsiveness
to reporter gene expression in transgenic soybean (Glycine max) hairy roots was examined. Chimeric constructs consisting of the rbcMT-T promoter fused to a bacterial β-glucuronidase (GUS) reporter gene and transferred to soybean via Agrobacterium rhizogenes were evaluated. The rbcMT-T promoter fragments conferred expression of the reporter gene in transgenic hairy roots, callus,
and cell suspension cultures based on histochemical and fluorometric GUS analyses. The results suggest a quantitative role
for the number of GT-1 motifs in determining differential expression between light and dark conditions.
Received: 7 January 1998 / Revision received: 23 March 1998 / Accepted: 13 April 1998 相似文献
12.
Tim K Footz Bruce Birren Shinsei Minoshima Shuichi Asakawa Nobuyoshi Shimizu M.Ali Riazi Heather E McDermid 《Genomics》1998,51(3):472
Cat eye syndrome (CES) is associated with a duplication of a segment of human chromosome 22q11.2. Only one gene,ATP6E, has been previously mapped to this duplicated region. We now report the mapping of the human homologue of the apoptotic agonistBidto human chromosome 22 near locus D22S57 in the CES region. Dosage analysis demonstrated thatBIDis located just distal to the CES region critical for the majority of malformations associated with the syndrome (CESCR), as previously defined by a single patient with an unusual supernumerary chromosome. However,BIDremains a good candidate for involvement in CES-related mental impairment, and its overexpression may subtly add to the phenotype of CES patients. Our mapping of murineBidconfirms that the synteny of the CESCR and the 22q11 deletion syndrome critical region immediately telomeric on human chromosome 22 is not conserved in mice.Bidand adjacent geneAtp6ewere found to map to mousechromosome 6, while the region homologous to the DGSCR is known to map to mouse chromosome 16. 相似文献
13.
Erich Roessler Deeann E. Ward Karin Gaudenz Elena Belloni Steven W. Scherer Dian Donnai Jacqueline Siegel-Bartelt Lap-Chee Tsui M. Muenke 《Human genetics》1997,100(2):172-181
Holoprosencephaly (HPE) is a genetically heterogeneous disorder that affects the midline development of the forebrain and
midface in humans. As a step toward identifying one of the HPE genes, we have set out to refine the HPE3 critical region on human chromosome 7q36 by analyzing 34 cell lines from families with cytogenetic abnormalities involving
7q, 24 of which are associated with HPE. Genomic clones surrounding the DNA marker D7S104, which has previously been shown
to be in the HPE3 critical region, have been examined by fluorescent in situ hybridization and microsatellite analysis of our panel of patient
cell lines. We report the analysis of a cluster of four translocation breakpoints within a 300-kb region of 7q36 that serves
to define the minimal critical region for HPE3 and that has directed the search for candidate genes. The human Sonic Hedgehog (hSHH) gene maps to this region and has been shown to be HPE3 on the basis of mutations within the coding region of the gene. We present evidence that cytogenetic deletions and/or rearrangements
of this region of chromosome 7q containing Sonic Hedgehog, and translocations that may suppress Sonic Hedgehog gene expression through a position effect are common mechanisms leading to HPE.
Received: 23 December 1996 / Accepted: 17 March 1997 相似文献
14.
Natalie H. Chapman Christopher Burt Paul Nicholson 《TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik》2009,118(6):1045-1057
Eyespot is a fungal disease of the stem base of cereal crops and causes lodging and the premature ripening of grain. Wheat
cultivar Cappelle Desprez contains a highly durable eyespot resistance gene, Pch2 on the long arm of chromosome 7A. A cDNA-amplified fragment length polymorphism (AFLP) platform was used to identify genes
differentially expressed between the eyespot susceptible variety Chinese Spring (CS) and the CS chromosome substitution line
Cappelle Desprez 7A (CS/CD7A) which contains Pch2. Induced and constitutive gene expression was examined to compare differences between non-infected and plants infected with
Oculimacula acuformis. Only 34 of approximately 4,700 cDNA-AFLP fragments were differentially expressed between CS and CS/CD7A. Clones were obtained
for 29 fragments, of which four had homology to proteins involved with plant defence responses. Fourteen clones mapped to
chromosome 7A and three of these mapped in the region of Pch2 making them putative candidates for involvement in eyespot resistance. Of particular importance are two fragments; 4CD7A8
and 19CD7A4, which have homology to an Oryza sativa putative callose synthase protein and a putative cereal cyst nematode NBS-LRR disease resistance protein (RCCN) respectively.
Differential expression associated with Pch2 was examined by semi-quantitative RT-PCR. Of those genes tested, only four were differentially expressed at 14 days post
inoculation. We therefore suggest that a majority of the differences in the cDNA-AFLP profiles are due to allelic polymorphisms
between CS and CD alleles rather than differences in expression.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. 相似文献
15.
Zahurul A. Bhuiyan Hitomi Yatsuki Toshiyuki Sasaguri Keiichiro Joh Hidenobu Soejima Xike Zhu Izuho Hatada Hiroko Morisaki Takayuki Morisaki Tsunehiro Mukai 《Human genetics》1999,104(3):205-210
p57
KIP2
is a potent tight-binding inhibitor of several G1 cyclin/cyclin-dependent kinase (Cdk) complexes, and is a negative regulator of cell proliferation. The gene encoding p57
KIP2
is located at 11p15.5, a region implicated in both sporadic cancers and Beckwith-Wiedemann syndrome (BWS). Previously we
demonstrated that p57
KIP2
is imprinted and only the maternal allele is expressed in both mice and humans. We also showed mutations found in p57
KIP2
in patients with BWS that were transmitted from the patients’ carrier mothers, indicating that the expressed maternal allele
was mutant and that the repressed paternal allele was normal. In the study reported here, we performed functional analysis
of the two mutated p57
KIP2
genes. We showed that the nonsense mutation found in the Cdk inhibitory domain in a BWS patient rendered the protein inactive
with consequent complete loss of its role as a cell cycle inhibitor and of its nuclear localization. We also showed that the
mutation in the QT domain, although completely retaining its cell cycle regulatory activity, lacked nuclear localization and
was thus prevented from performing its role as an active cell cycle inhibitor. Consequently, no active p57
KIP2
would have existed, which might have caused the disorders in BWS patients.
Received: 7 November 1998 / Accepted: 19 December 1998 相似文献
16.
Susannah M. Walpole Nathalie Ronce Celene Grayson Benoît Dessay John R. W. Yates D. Trump Annick Toutain 《Human genetics》1999,104(5):410-411
Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital cataracts, microphthalmia and/or microcornea,
unusual dental morphology, dysmorphic facial features, and developmental delay in some cases. Recent linkage studies have
mapped the NHS disease gene to a 3.5-cM interval on Xp22.2 between DXS1053 and DXS443. We previously identified a human homologue
of a mouse retinoic-acid-induced gene (RAI2) within the NHS critical flanking interval and have tested the gene as a candidate for Nance-Horan syndrome in nine NHS-affected
families. Direct sequencing of the RAI2 gene and predicted promoter region has revealed no mutations in the families screened; RAI2 is therefore unlikely to be associated with NHS.
Received: 11 December 1998 / Accepted: 1 March 1998 相似文献
17.
C. Bombieri Mariagiovanna Benetazzo Arianna Saccomani Francesca Belpinati Lucia Sonia Gilè Maurizio Luisetti Pier Franco Pignatti 《Human genetics》1998,103(6):718-722
In order to determine the possible role of the cystic fibrosis transmembrane regulator (CFTR) gene in pulmonary diseases not due to cystic fibrosis, a complete screening of the CFTR gene was performed in 120 Italian patients with disseminated bronchiectasis of unknown cause (DBE), chronic bronchitis (CB),
pulmonary emphysema (E), lung cancer (LC), sarcoidosis (S) and other forms of pulmonary disease. The 27 exons of the CFTR gene and their intronic flanking regions were analyzed by denaturing gradient gel electrophoresis and automatic sequencing.
Mutations were detected in 11/23 DBE (P=0.009), 7/25 E, 5/27 CB, 5/26 LC, 5/8 S (P=0.013), 1/4 tuberculosis, and 1/5 pneumonia patients, and in 5/33 controls. Moreover, the IVS8–5T allele was detected in
6/25 E patients (P=0.038). Four new mutations were identified: D651N, 2377C/T, E826K, and P1072L. These results confirm the involvement of the
CFTR gene in disseminated bronchiectasis of unknown origin, and suggest a possible role for CFTR gene mutations in sarcoidosis, and for the 5T allele in pulmonary emphysema.
Received: 9 September 1998 / Accepted: 21 October 1998 相似文献
18.
Jibao Chen Xiaoyan Zhang Ruilian Jing Matthew W. Blair Xinguo Mao Shumin Wang 《TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik》2010,120(7):1393-1404
Δ1-pyrroline-5-carboxylate synthetase (P5CS) is the rate-limiting enzyme involved in the biosynthesis of proline in plants.
By the 3′ rapid amplification of cDNA ends (3′-RACE) approach, a 2,246-bp cDNA sequence was obtained from common bean (Phaseolus vulgaris L.), denominated PvP5CS2 differing from another P5CS gene that we cloned previously from common bean (PvP5CS). The predicted amino acid sequence of PvP5CS2 has an overall 93.2% identity GmP5CS (Glycine max L. P5CS). However, PvP5CS2 shows only 83.7% identity in amino acid sequence to PvP5CS, suggesting PvP5CS2 represents a homolog of the soybean P5CS gene. Abundant indel (insertion and deletion events) and SNP (single nucleotide
polymorphisms) were found in the cloned PvP5CS2 genome sequence when comparing 24 cultivated and 3 wild common bean accessions and these in turn reflected aspects of common
bean evolution. Sequence alignment showed that genotypes from the same gene pool had similar nucleotide variation, while genotypes
from different gene pools had distinctly different nucleotide variation for PvP5CS2. Furthermore, diversity along the gene sequence was not evenly distributed, being low in the glutamic-g-semialdehyde dehydrogenase catalyzing region, moderate in the Glu-5-kinase catalyzing region and high in the intervening
region. Neutrality tests showed that PvP5CS2 was a conserved gene undergoing negative selection. A new marker (Pv97) was developed for genetic mapping of PvP5CS2 based on an indel between DOR364 and G19833 sequences and the gene was located between markers Bng126 and BMd045 on chromosome b01. The relationship of PvP5CS2 and a previously cloned pyrroline-5-carboxylate synthetase gene as well as the implications of this work on selecting for
drought tolerance in common bean are discussed. 相似文献
19.
Mario Chiariello Laura De Gregorio Rosalba Vitelli Pietro Alifano Tommaso A. Dragani Carmelo B. Bruni Cecilia Bucci 《Mammalian genome》1998,9(6):448-452
Rab proteins are small GTP-ases localized to distinct membrane compartments in eukaryotic cells and regulating specific steps
of intracellular vesicular membrane traffic. The Rab7 protein is localized to the late endosomal compartment and controls
late steps of endocytosis. We have isolated, by library screening, the 5′ region, including the promoter, of the mouse Rab7 gene and a Rab7 pseudogene. We have mapped, by genetic linkage analysis, the mouse Rab7 gene on Chromosome (Chr) 6 and the Rab7-ps1 pseudogene on Chr 9, where the Rab7 gene has been previously reported to map. By radiation hybrid mapping, we have located the human RAB7 gene on Chr 3, in a
region homologous to the mouse Chr 6, where the Rab7 gene maps.
Received: 27 October 1997 / Accepted: 1 January 1998 相似文献
20.
MURRAY H. BRILLIANT RICHARD KING UTA FRANCKE SIMONE SCHUFFENHAUER THOMAS MEITINGER JOHN M. GARDNER DONNA DURHAM-PIERRE YOSHIMICHI NAKATSU 《Pigment cell & melanoma research》1994,7(6):398-402
Mutations at the mouse pink-eyed dilution locus, p, cause hypopigmentation. We have cloned the mouse p gene cDNA and the cDNA of its human counterpart, P. The region of mouse chromosome 7 containing the p locus is syntenic with human chromosome 15q11-q13, a region associated with Prader-Willi syndrome (PWS) and Angelman syndrome (AS), both of which involve profound imprinting effects. PWS patients lack sequences of paternal origin from 15q, whereas AS patients lack a maternal copy of an essential region from 15q. However, the critical regions for these syndromes are much smaller than the chromosomal region commonly deleted that often includes the P gene. Hypopigmentation in PWS and AS patients is correlated with deletions of one copy of the human P gene that is highly homologous with its mouse counterpart. A subset of PWS and AS patients also have OCA2. These patients lack one copy of the P gene in the context of a PWS or AS deletion, with a mutation in the remaining chromosomal homologue of the P gene. Mutations in both homologues of the P gene of OCA2 patients who do not have PWS or AS have also been detected. 相似文献