Jian Min Chen

Summary

Country: France

Publications

  1. pmc Assessing the pathological relevance of SPINK1 promoter variants
    Arnaud Boulling
    Institut National de Sante et de Recherche Medicale INSERM, U613, Brest, France
    Eur J Hum Genet 19:1066-73. 2011
  2. doi Patterns and mutational signatures of tandem base substitutions causing human inherited disease
    Jian Min Chen
    Institut National de la Sante et de la Recherche Medicale, Brest, France
    Hum Mutat 34:1119-30. 2013
  3. doi Transient hypermutability, chromothripsis and replication-based mechanisms in the generation of concurrent clustered mutations
    Jian Min Chen
    Institut National de la Sante et de la Recherche Medicale INSERM, U613, Brest, France
    Mutat Res 750:52-9. 2012
  4. pmc Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography
    C Le Marechal
    Inserm EMI 0115, Génétique Moléculaire et Génétique Epidémiologique, Établissement Français du sang Bretagne, Universite de Bretagne Occidentale, Centre Hospitalier Universitaire, Brest, France
    BMC Genet 2:19. 2001
  5. doi Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes
    Jian Min Chen
    Institut National de la Sante et de la Recherche Medicale, U613, Brest, France
    Hum Mutat 30:1435-48. 2009
  6. doi Chronic pancreatitis: genetics and pathogenesis
    Jian Min Chen
    Institut National de la Sante et de la Recherche Medicale INSERM, U613, Brest, France
    Annu Rev Genomics Hum Genet 10:63-87. 2009
  7. pmc Mechanism of Alu integration into the human genome
    Jian Min Chen
    INSERM, U613, 29220, Brest, France
    Genomic Med 1:9-17. 2007
  8. ncbi Detection of two Alu insertions in the CFTR gene
    Jian Min Chen
    INSERM, U613, 29220 Brest, France
    J Cyst Fibros 7:37-43. 2008
  9. ncbi Gene conversion: mechanisms, evolution and human disease
    Jian Min Chen
    INSERM, U613, 29220 Brest, France
    Nat Rev Genet 8:762-75. 2007
  10. ncbi A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview
    Jian Min Chen
    INSERM, U613, 29220, Brest, France
    Hum Genet 120:1-21. 2006

Collaborators

Detail Information

Publications56

  1. pmc Assessing the pathological relevance of SPINK1 promoter variants
    Arnaud Boulling
    Institut National de Sante et de Recherche Medicale INSERM, U613, Brest, France
    Eur J Hum Genet 19:1066-73. 2011
    ..We conclude that only the three promoter variants associated with a loss-of-function (ie, -53C>T, -142T>C and -147A>G) are likely to be disease-predisposing alterations...
  2. doi Patterns and mutational signatures of tandem base substitutions causing human inherited disease
    Jian Min Chen
    Institut National de la Sante et de la Recherche Medicale, Brest, France
    Hum Mutat 34:1119-30. 2013
    ..Finally, the rates of double and triple TBSs were estimated to be 0.2-1.2 × 10(-10) and 0.8-4.8 × 10(-12) per base per generation, respectively...
  3. doi Transient hypermutability, chromothripsis and replication-based mechanisms in the generation of concurrent clustered mutations
    Jian Min Chen
    Institut National de la Sante et de la Recherche Medicale INSERM, U613, Brest, France
    Mutat Res 750:52-9. 2012
    ....
  4. pmc Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography
    C Le Marechal
    Inserm EMI 0115, Génétique Moléculaire et Génétique Epidémiologique, Établissement Français du sang Bretagne, Universite de Bretagne Occidentale, Centre Hospitalier Universitaire, Brest, France
    BMC Genet 2:19. 2001
    ..This imposes a serious concern on the genotyping of pancreatitis by a widely used polymerase chain reaction-restriction fragment length polymorphism assay, which could only detect the commonest c.365G>A variant...
  5. doi Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes
    Jian Min Chen
    Institut National de la Sante et de la Recherche Medicale, U613, Brest, France
    Hum Mutat 30:1435-48. 2009
    ....
  6. doi Chronic pancreatitis: genetics and pathogenesis
    Jian Min Chen
    Institut National de la Sante et de la Recherche Medicale INSERM, U613, Brest, France
    Annu Rev Genomics Hum Genet 10:63-87. 2009
    ....
  7. pmc Mechanism of Alu integration into the human genome
    Jian Min Chen
    INSERM, U613, 29220, Brest, France
    Genomic Med 1:9-17. 2007
    ..Furthermore, the nascent Alu cDNA strand may be 'hijacked' to patch existing double strand breaks located in the top-strand's upstream regions, leading to the generation of large genomic deletions...
  8. ncbi Detection of two Alu insertions in the CFTR gene
    Jian Min Chen
    INSERM, U613, 29220 Brest, France
    J Cyst Fibros 7:37-43. 2008
    ..This study represents an attempt to identify such mutational events...
  9. ncbi Gene conversion: mechanisms, evolution and human disease
    Jian Min Chen
    INSERM, U613, 29220 Brest, France
    Nat Rev Genet 8:762-75. 2007
    ....
  10. ncbi A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview
    Jian Min Chen
    INSERM, U613, 29220, Brest, France
    Hum Genet 120:1-21. 2006
    ....
  11. doi Genomic rearrangements in inherited disease and cancer
    Jian Min Chen
    Etablissement Français du Sang EFS Bretagne, Brest, France
    Semin Cancer Biol 20:222-33. 2010
    ....
  12. ncbi Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions
    Jian Min Chen
    Institut National de la Santé et de la Recherche Médicale U613, Établissement Français du sang Bretagne, Universite de Bretagne Occidentale, Centre Hospitalier Universitaire, Brest, France
    Hum Mutat 26:362-73. 2005
    ..This study therefore lends broad support to our postulate that intrachromosomal SRStrans can account for a variety of complex gene rearrangements that involve inversions...
  13. doi Revealing the human mutome
    J M Chen
    Etablissement Français du Sang EFS Bretagne, Brest, France
    Clin Genet 78:310-20. 2010
    ..An improved understanding of the human mutome will not only lead to the development of improved diagnostic testing procedures but should also improve our understanding of human genome biology...
  14. ncbi A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3' UTR variants
    Jian Min Chen
    INSERM, U613, 29220, Brest, France
    Hum Genet 120:301-33. 2006
    ..This not only led us to identify further patterns of secondary structural change but also several potential novel cis-regulatory motifs within the 3' UTRs studied...
  15. ncbi Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage
    Jian Min Chen
    INSERM Institut National de la Santé et de la Recherche Médicale U613 Génétique Moléculaire et Génétique Epidémiologique, Universite de Bretagne Occidentale, Centre Hospitalier Universitaire, Brest, France
    Hum Mutat 25:207-21. 2005
    ..Finally, evidence for another novel mechanism of human genetic disease, involving the possible capture of DNA oligonucleotides, is presented in the context of a 26-bp insertion into the ERCC6 gene...
  16. ncbi Complex gene rearrangements caused by serial replication slippage
    Jian Min Chen
    INSERM U613 Génétique moléculaire et génétique épidémiologique, Établissement Français du sang Bretagne, Universite de Bretagne Occidentale, Centre Hospitalier Universitaire, Brest, France
    Hum Mutat 26:125-34. 2005
    ..Our postulate that serial replication slippage may account for a variety of complex gene rearrangements has therefore received broad support from the study of the above diverse series of mutations...
  17. ncbi A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease
    Jian Min Chen
    INSERM U613 Génétique moléculaire et génétique épidémiologique, Établissement Français du sang Bretagne, Universite de Bretagne Occidentale, Centre Hospitalier Universitaire, Brest, 29220, France
    Hum Genet 117:411-27. 2005
    ..Finally, the identification of independent retrotranspositional events that have integrated at the same genomic locations provides new insight into the L1-mediated insertional process in humans...
  18. ncbi Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis
    Marie Pierre Audrezet
    INSERM EMI 01 15, Génétique Moléculaire et Génétique Epidémiologique, Centre Hospitalier Universitaire, Brest, France
    Eur J Hum Genet 10:100-6. 2002
    ..Moreover, a trans-heterozygous state with sequence variations in the PSTI/CFTR genes was found in three patients. However, an association between the 5T allele in intron 8 of the CFTR gene and ICP remains unproven...
  19. doi Genetic analysis of the glycoprotein 2 gene in patients with chronic pancreatitis
    Emmanuelle Masson
    Institut National de la Sante et de la Recherche Medicale INSERM, U613, 29218 Brest, France
    Pancreas 39:353-8. 2010
    ..The aim of this study was to evaluate whether variations in the glycoprotein 2 gene (GP2) may potentially affect the risk of chronic pancreatitis...
  20. ncbi Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms
    Marie Pierre Audrezet
    INSERM U613, Génétique Moléculaire et Génétique Epidémiologique, Centre Hospitalier Universitaire, Brest, France
    Hum Mutat 23:343-57. 2004
    ..The insertion of this ultra-short LINE-1 element (dubbed a "hyphen element") may constitute a novel type of mutation associated with human genetic disease...
  21. ncbi Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis
    Emmanuelle Masson
    INSERM, U613, 29220 Brest, France
    Mol Genet Metab 92:168-75. 2007
    ..Given that the SPINK1 deletion constitutes a clear-cut disease-causing factor, it may be that the CFTR missense mutation acts as a disease modifier in the context of this particular family...
  22. doi Establishment of a medium-throughput approach for the genotyping of RHD variants and report of nine novel rare alleles
    Yann Fichou
    Etablissement Français du Sang EFS Bretagne, Brest, France
    Transfusion 53:1821-8. 2013
    ..However, DHPLC is technically challenging, labor-intensive, and time-consuming. To overcome these inconveniences, we sought to develop a new two-step approach...
  23. ncbi Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene
    Emmanuelle Masson
    INSERM, U613, 29220 Brest, France
    Eur J Hum Genet 14:1204-8. 2006
    ..Identification of this lesion has not only expanded the SPINK1 mutational spectrum but also served to identify a novel mutational mechanism causing chronic pancreatitis...
  24. ncbi Hereditary pancreatitis caused by triplication of the trypsinogen locus
    Cédric Le Maréchal
    Institut National de la Sante et de la Recherche Medicale INSERM, U613, 29220 Brest, France
    Nat Genet 38:1372-4. 2006
    ..This triplication, which seems to result in a gain of trypsin through a gene dosage effect, represents a previously unknown molecular mechanism causing hereditary pancreatitis...
  25. pmc Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci
    Sylvia Quemener
    INSERM U613, and Université de Bretagne Occidentale, 46 rue Félix Le Dantec, Brest, France
    Hum Mutat 31:421-8. 2010
    ....
  26. ncbi Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis
    Emmanuelle Masson
    Institut National de la Sante et de la Recherche Medicale INSERM, U613, Brest, France
    Clin Gastroenterol Hepatol 6:82-8. 2008
    ....
  27. doi A convenient qualitative and quantitative method to investigate RHD-RHCE hybrid genes
    Yann Fichou
    Etablissement Français du Sang EFS Bretagne, Brest, France Institut National de la Santé et de la Recherche Médicale INSERM, U1078, Brest, France Faculté de Médecine et des Sciences de la Santé, Universite de Bretagne Occidentale, Brest, France Laboratoire de Génétique Moléculaire et d Histocompatibilité, Centre Hospitalier Regional Universitaire CHRU, Hopital Morvan, Brest, France
    Transfusion 53:2974-82. 2013
    ..However, some alleles remain undetermined in rare cases in DNA samples carrying two copies of the RHD gene, which challenge the identification of D-CE hybrid genes...
  28. pmc A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients
    Emmanuelle Masson
    Institut National de la Sante et de la Recherche Medicale, U1078, Brest, France
    PLoS ONE 8:e73522. 2013
    ....
  29. ncbi Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms
    Claude Ferec
    INSERM, U613 Génétique Moléculaire et Génétique Epidémiologique, Brest, France
    Eur J Hum Genet 14:567-76. 2006
    ....
  30. ncbi "Loss of function" mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis
    Jian Min Chen
    INSERM EMI 01 15, Génétique Moléculaire et Génétique Epidémiologique, Universite de Bretagne Occidentale, Établissement Français du sang Bretagne, Centre Hospitalier Universitaire de Morvan, Brest, France
    Mol Genet Metab 79:67-70. 2003
    ....
  31. ncbi Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene
    Arnaud Boulling
    INSERM, U613, Établissement Français du sang Bretagne, Brest 29220, France
    Eur J Hum Genet 15:936-42. 2007
    ..This is suggestive of a potential unifying pathological mechanism underlying both the signal peptide and mature peptide mutations...
  32. doi Weak D caused by a founder deletion in the RHD gene
    Yann Fichou
    Etablissement Français du Sang EFS Bretagne, France
    Transfusion 52:2348-55. 2012
    ..Weak D phenotypes are generally thought to result from missense mutations leading to quantitative change of the D antigen in the red blood cell membrane or intracellularly...
  33. doi Characterization of two deletions of the CTRC locus
    Emmanuelle Masson
    Institut National de la Sante et de la Recherche Medicale INSERM, U1078, Brest, France
    Mol Genet Metab 109:296-300. 2013
    ..The CTRC-deleting complex rearrangement probably resulted from LINE-1-mediated Alu insertion, which represents a novel mutational mechanism causing chronic pancreatitis...
  34. pmc Type of PKD1 mutation influences renal outcome in ADPKD
    Emilie Cornec-Le Gall
    Nephrology Department, University Hospital, Brest, France
    J Am Soc Nephrol 24:1006-13. 2013
    ..This observation allows the integration of genic and allelic effects into a single scheme, which may have prognostic value...
  35. doi Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation
    Emmanuelle Masson
    Institut National de la Sante et de la Recherche Medicale INSERM, U613, 29220, Brest, France
    Hum Genet 123:521-9. 2008
    ..Our finding should also stimulate more interest in analyzing both types of genetic variation whenever one tries to determine the contribution of a specific locus to a given disease phenotype...
  36. ncbi Identification of 12 novel RHD alleles in western France by denaturing high-performance liquid chromatography analysis
    Cédric Le Maréchal
    Établissement Français du sang Bretagne, Brest, France
    Transfusion 47:858-63. 2007
    ..Although more than 100 RHD variants have currently been reported, many more rare alleles probably remain to be identified...
  37. doi Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis
    Emmanuelle Masson
    Institut National de la Sante et de la Recherche Medicale INSERM, U613, 29220, Brest, France
    Hum Genet 123:83-91. 2008
    ..1%) (OR = 11.8 [3.9-40.6]), chi (2) = 31.58, P < 10(-6)). This genetic finding, when considered in the perceived role of CTRC in eliminating prematurely activated trypsin, indicated that CTRC is a new pancreatitis susceptibility gene...
  38. ncbi Evolution of trypsinogen activation peptides
    Jian Min Chen
    Institut National de la Sante et de la Recherche Medicale, Génétique Moléculaire et Génétique Epidémiologique, Universite de Bretagne Occidentale, Établissement Français du sang Bretagne, Brest, France
    Mol Biol Evol 20:1767-77. 2003
    ..Finally, fixed substitutions in the key residues of the trypsinogen activation peptide may suggest the evolution of new functions unrelated to digestion, as found in the group III trypsinogens of cold-adapted fishes...
  39. doi The c.1275A>G putative chronic pancreatitis-associated synonymous polymorphism in the glycoprotein 2 (GP2) gene decreases exon 9 inclusion
    Arnaud Boulling
    Institut National de la Sante et de la Recherche Medicale, U613, Brest, France
    Mol Genet Metab 99:319-24. 2010
    ..Exon 9 skipping was presumed to cause a loss of GP2 function. This study represents the first detailed analysis of any variation in the GP2 gene and gives some support to the putative association of c.1275A>G with disease protection...
  40. doi Variant screening of the RHD gene in a large cohort of subjects with D phenotype ambiguity: report of 17 novel rare alleles
    Yann Fichou
    Etablissement Français du Sang EFS Bretagne, Brest, France
    Transfusion 52:759-64. 2012
    ....
  41. doi Elucidation of the complex structure and origin of the human trypsinogen locus triplication
    Angélique Chauvin
    Institut National de la Sante et de la Recherche Medicale INSERM, U613, Brest, France
    Hum Mol Genet 18:3605-14. 2009
    ..The low copy repeats thereby generated could then serve to promote NAHR during meiosis, giving rise to amplified DNA sequences which would themselves predispose to further recombinational events during both mitosis and meiosis...
  42. pmc A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family
    Paul Guéguen
    Institut National de la Sante et de la Recherche Medicale INSERM, U1078, Brest, France Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale UBO, Brest, France Laboratoire de Génétique Moléculaire et d Histocompatibilité, Centre Hospitalier Universitaire CHU Brest, Hopital Morvan, Brest, France
    PLoS ONE 8:e74728. 2013
    ..Our study concurred with a recently published whole-exome sequence analysis of six small Japanese families with congenital macrothrombocytopenia, adding ACTN1 to the growing list of thrombocytopenia genes. ..
  43. doi Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients
    Marie Pierre Audrezet
    Institut National de la Sante et de la Recherche Medicale, Brest, France
    Hum Mutat 33:1239-50. 2012
    ....
  44. ncbi Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype
    Gerald Le Gac
    INSERM U613, Brest, France
    Blood 112:5238-40. 2008
    ..C282Y mutation. Contrasting with previously reported results in Hfe knockout and Hfe knockin mice, our report gives further evidence that progression of the disease depends on modifying factors...
  45. ncbi Trypsinogen hL is not a new member of the human trypsinogen family, but a known mouse ortholog
    Jian Min Chen
    Inserm EMI 0115, Génétique Moléculaire et Génétique Epidémiologique, Universite de Bretagne Occidentale, Établissement Français du sang Bretagne, Centre Hospitalier Universitaire, Brest 29275, France
    Biol Pharm Bull 26:909. 2003
    ..Publication of this cloning artifact could have been avoided by a simple BLAST search of GenBank or other sequence databanks...
  46. ncbi Genetics and pathogenesis of chronic pancreatitis: the 2012 update
    Jian Min Chen
    Institut National de Sante et de Recherche Medicale INSERM, U1078 and Établissement français du sang Bretagne, 46, rue Félix le Dantec, 29218 Brest, France
    Clin Res Hepatol Gastroenterol 36:334-40. 2012
    ....
  47. ncbi Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication
    Campbell R Sheen
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
    Hum Mutat 28:1198-206. 2007
    ..This investigation has provided novel insights into processes of DNA repair including BIR and the first description of SRS during repair in a pathological context...
  48. ncbi A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element
    Manuele Mine
    Centre de Recherches Thérapeutiques en Ophtalmologie, Faculte de Medecine Necker, Paris, France
    Hum Mutat 28:137-42. 2007
    ..Our finding not only serves as an important complement to the in vitro approaches to studying L1 retrotransposition, but also reveals a novel mechanism causing human genetic disease...
  49. doi Role of non-B DNA conformations in initiating the nonallelic homologous recombination-derived Se allele and the interlocus gene conversion-derived Sec1-FUT2-Sec1 hybrid allele
    Jian Min Chen
    Transfusion 48:1522-3; author reply 1523-4. 2008
  50. doi The 10-Mb paracentric inversion of chromosome arm 2p in activating MSH2 and causing hereditary nonpolyposis colorectal cancer: re-annotation and mutational mechanisms
    Jian Min Chen
    Genes Chromosomes Cancer 47:543-5. 2008
  51. doi Absence of mesotrypsinogen gene (PRSS3) copy number variations in patients with chronic pancreatitis
    Emmanuelle Masson
    Pancreas 37:227-8. 2008
  52. ncbi [Molecular evolution of beta-glucuronidase in vitro: obtaining thermotolerant GUS gene]
    Ai Sheng Xiong
    Shanghai Key Laboratory of Agricultural Genetics and Breeding, Agro Biotechnology Research Center, Shanghai Academy of Agricultural Sciences, Shanghai 201106, China
    Yi Chuan Xue Bao 29:1034-40. 2002
    ..The Tm value of GUS3-3 is 80 degrees C and increased by 25 degrees C above GUS-ck (55 degrees C). The researches indicated the feasibility of the molecular evolution of beta-glucuronidase in vitro to improve enzymatic thermostability...
  53. ncbi Isolated and characterization of a cDNA encoding ethylene-responsive element binding protein (EREBP)/AP2-type protein, RCBF2, in Oryza sativa L
    Jin Ge Liu
    Department of Horticulture, Nanjing Agricultural University, Weigang, Nanjing, People s Republic of China
    Biotechnol Lett 29:165-73. 2007
    ....
  54. ncbi Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2)
    Niels Teich
    Medizinische Klinik und Poliklinik II, Universitat Leipzig, Leipzig, Germany
    Hum Mutat 23:22-31. 2004
    ....