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Principal Investigators

Faculty and Staff

Principal Investigators
KONG Xiangyin
Ph.D., Professor, Principal Investigator
Laboratory of Molecular Genetics

Research Interests or Current Research Focus
1. Identify the genetics and epigenetic variations associated with human diseases.
2. Investigate the function of identified disease related genes to gain insight into the molecular role of these genes in disease development.

Major Research Achievement
1. We found distinct mutations in DSPP associated with Dentinogenesis imperfecta 1 with or without progressive hearing loss (Nat Genet. 2001 Feb;27(2):201-4).
2. We for the first time in the world found HSF4 mutations cause childhood hereditary lamellar cataract. This finding built the connection between the synthesis of the heat-shock protein and the formation of cataract, and discovered a new path of cataract development. This work was published as a cover story (HSF4 and cataract) in Nature Genetics (Nat Genet. 2002 Jul; 31(3):276-8). We also found Crygs gene mutation causes autosomal recessive cataract in mouse (Genomics. 2002 Jul; 80(1):38-44).
3. We for the first time found CYLD mutation causes multiple familial trichoepithelioma in three Chinese families. The primary result was release on 2002 Shanghai Human Genome meeting and the final result published on Hum Mutat (Hum Mutat. 2004 Apr;23(4):400).
4. We found Uncv gene two different deletions cause mouse hair follicle developmental defect. Transgenic mouse with the wild-type allele can partially rescue the phenotype. (Manuscript in preparation).
5. We found association of IL4R gene polymorphisms with asthma in Chinese population. People carrying the susceptible alllele have about 5 times more risk to have asthma (Hum Mutat revised).
Our most recent research interest is briefly described as follows:
1. The role of HSF4 in lens development and cataract formation. HSF4 is a transcript factor. It has been known that this transcript factor regulates the transcription of some heat shock protein genes. We are interested in how HSF4 regulates the behavior of lens epithelial cells, whether it regulates the synthesis of lens structure proteins and whether this gene is also involved in the development of age related cataract.
2. The role of Uncv gene in hair follicle development. Uncv gene mutations could lead to hair follicledevelopmental defect, but the mechanism is not known. We are interested to know the molecularsignal pathway Uncv gene involved. How Uncv regulates hair follicle cycle and hair stem cellapoptosis.
3. Functional study of a potential progressive hyperpigmentation causing missense mutation of WZQKL gene. By positional cloning, we found a missense mutation in WZQKL gene associated with progressive hyperpigmentation in a lkarge Chinese family. We are investigating the function of this mutation in melanocyte proliferation and melanin production.
4. Identify the disease gene of A Maternally Inherited Human Gingival Fibromatosis. Human isolated gingival fibromatosis is an oral disorder characterized by a slowly progressive benign enlargement of gingival tissues. We recently mapped a maternally inherited gingival fibromatosis locus in two unrelated Chinese families to a 5Mb region on human chromosome 11p15. This indicates that genome imprinting might affect the development of HGF. We are looking for the genes involved in this maternal transmitted disorder.
5. The role of asthma susceptible allele of IL4R in regulating Th1/Th2 balance and IgE production.

1988.07 Bachelor, Shandong Medical University, China

Major Academic Appointments
Visiting Scholar at:
Max-Planck Institute for Molecular Genetics (1995.08 to 1997.10)
The Forsyth Institute and Harvard School of Dental Medicine (2001.01 to 2001.04)
University of Bath,, UK (2004.01 to 2004.04)
Wellcome Trust/Cancer Research UK Gurdon Institute, Cambridge, UK (2007.01 to 2007.07)
PI, Institute of Health Sciences (2002.04 to present)

Honors, Certificates, and Academic Society
2002 The Second Prize of Shanghai Scientific Technology Progress
2003 The First Prize of Shanghai Scientific Technology Progress
2002 The Second prize of National Award of Natural Science
2004 Science and technology award of Chinese young Scientists
2004 Top Ten Outstanding Youth of CAS
2004 Mudan prize of Shanghai Natural Science

Recent Publications

  1. Shao J, Xu D, Hu L, Kwan YW, Wang Y, Kong X, Ngai SM. Systematic analysis of human lysine acetylation proteins and accurate prediction of human lysine acetylation through bi-relative adapted binomial score Bayes feature representation. Mol Biosyst. 2012 Oct; 8(11):2964-2973.
  2. Yi XF, He ZS, Chou KC, Kong XY. Nucleosome positioning based on the sequence word composition. Protein Pept Lett. 2012 Jan; 19(1):79-90.
  3. Liu Y, Xu H, Chen S, Chen X, Zhang Z, Zhu Z, Qin X, Hu L, Zhu J, Zhao G, Kong X. Genome-Wide Interaction-Based Association Analysis Identified Multiple New Susceptibility Loci for Common diseases. PLoS Genet. 2011, 7(3): e1001338.
  4. Zhou L, Zhang Z, Zheng Y, Zhu Y, Wei Z, Xu H, Tang Q, Kong X, Hu L. SKAP2, a novel target of HSF4b, associates with NCK2/F-actin at membrane ruffles and regulates actin reorganization in lens cell. J Cell Mol Med. 2011 Apr; 15(4):783-95.
  5. Xu Z, Zheng Y, Zhu Y, Kong X, Hu L. Evidence for OTUD-6B Participation in B Lymphocytes Cell Cycle after Cytokine Stimulation. PloS One. 2011 Jan 18; 6(1): e14514.
  6. Zhang Z, Zhou L, Hu L, Zhu Y, Xu H, Liu Y, Chen X, Yi X, Kong X, Hurst LD. Nonsense-mediated decay targets have multiple sequence-related features that can inhibit translation. Mol Syst Biol. 2010 Dec 14; 6:442.
  7. Xu H, Wang P, Fu Y, Zheng Y, Tang Q, Si L, You J, Zhang Z, Zhu Y, Zhou L, Wei Z, Lin B, Hu L, Kong X. Length of the ORF, position of the first AUG and the Kozak motif are important factors in potential dual-coding transcripts. Cell Res. 2010 Apr; 20(4): 445-57.
  8. Yi X, Cai YD, He Z, Cui W, Kong X. Prediction of nucleosome positioning based on transcription factor binding sites. PLoS One. 2010 Sep 1; 5(9). pii: e12495.
  9. Chen X, Li X, Wang P, Liu Y, Zhang Z, Zhao G, Xu H, Zhu J, Qin X, Chen S, Hu L, Kong X. Novel association strategy with copy number variation for identifying new risk Loci of human diseases. PLoS One. 2010 Aug 20; 5(8):e12185.
  10. Xu H, Wang P, You J, Zheng Y, Fu Y, Tang Q, Zhou L, Wei Z, Lin B, Shu Y, Zhu Y, Hu L, Kong X. Screening of Kozak-motif-located SNPs and analysis of their association with human diseases. BBRC. 2010 Jan 29; 392(1):89-94.
  11. Zhang Z, Zhou L, Wang P, Liu Y, Chen X, Hu L, Kong X. Divergence of exonic splicing elements after gene duplication and the impact on gene structures. Genome Biol. 2009 Nov 2; 10(11):R120.
  12. Yin S, Wang P, Deng W, Zheng H, Hu L, Hurst LD, Kong X. Dosage compensation on the active X chromosome minimizes transcriptional noise of X-linked genes in mammals. Genome Biol. 2009 Jul 13;10(7):R74.
  13. Yin S, Deng W, Hu L, Kong X. The impact of nucleosome positioning on the organization of replication origins in eukaryotes. Biochem Biophys Res Commun. 2009 Jul 31;385(3):363-8.
  14. Yin S, Deng W, Zheng H, Zhang Z, Hu L, Kong X. Evidence that the nonsense-mediated mRNA decay pathway participates in X chromosome dosage compensation in mammals. Biochem Biophys Res Commun. 2009 Jun 5;383(3):378-82.
  15. Zhang Z, Xin D, Wang P, Zhou L, Hu L, Kong X, Hurst LD. Noisy splicing, more than expression regulation, explains why some exons are subject to nonsense-mediated mRNA decay. BMC Biol. 2009 May 14; 7(1):23.
  16. Kay Ka Wai Li, Jesse Chung-sean Pang, Arthur Ka-keung Ching, Chun Kwok Wong, Xiangyin Kong, Yin Wang, Liangfu Zhou, Ho-keung Ng. miR-124 is frequently down-regulated in medulloblastoma and is a negative regulator of LC16A1. Hum Pathol. 2009 May 6. [Epub ahead of print]
  17. Wang ZQ, Si L, Tang Q, Lin D, Fu Z, Zhang J, Cui B, Zhu Y, Kong X, Deng M, Xia Y, Xu H, Le W, Hu L, Kong X. Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. Am J Hum Genet. 2009 May;84(5):672-7.
  18. Shi X, Cui B, Wang Z, Weng L, Xu Z, Ma J, Xu G, Kong X, Hu L. Removal of Hsf4 leads to cataract development in mice through down-regulation of gamma S-crystallin and Bfsp expression. BMC Mol Biol. 2009 Feb 19;10:10.
  19. Cai Y, He J, Li X, Lu L, Yang X, Feng K, Lu W, Kong X. A novel computational approach to predict transcription factor DNA binding preference. J Proteome Res. 2009 Feb;8(2):999-1003.
  20. Wang P, Yin S, Zhang Z, Xin D, Hu L, Kong X, Hurst LD. Evidence for common short natural trans sense-antisense pairing between transcripts from protein coding genes. Genome Biol. 2008;9(12):R169.
  21. Feng D, Wang Y, Mei Y, Xu Y, Xu H, Lu Y, Luo Q, Zhou S, Kong X, Xu L. Stearoyl-CoA desaturase 1 deficiency protects mice from immune-mediated liver injury. Lab Invest. 2009 Feb;89(2):222-30.
  22. Shi Y, Shi X, Jin Y, Miao A, Bu L, He J, Jiang H, Lu Y, Kong X, Hu L. Mutation screening of HSF4 in 150 age-related cataract patients. Mol Vis. 2008;14:1850-5.
  23. Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, Wu GP, Zhang ZF, Gu B, Zhao YF, Tian SH, Lin B, Kong XY, Zhang XL, Yang W, Lo WH, Zhang X. Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. J Med Genet. 2008 Sep;45(9):589-95.
  24. Xin D, Hu L, Kong X. Alternative promoters influence alternative splicing at the genomic level. PLoS ONE. 2008 Jun 18;3(6):e2377.
  25. Zhou P, Wang Z, Zhang J, Hu L, Kong X. Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus. Mol Vis. 2008 May 30;14:1015-9.
  26. Zhang J, Teng XK, Si LZ, Zhou PT, Kong XY , Hu LD. New evidence for the involvement of the EGF receptor pathway in hair follicle morphogenesis in uncv mice. GENES & GENOMICS 2008; 30(4): 347-353
  27. Jiang H, Sun B, Wang W, Zhang Z, Gao F, Shi G, Cui B, Kong X, He Z, Ding X, Kuang Y, Fei J, Sun YJ, Feng Y, Jin Y. Activation of paternally expressed imprinted genes in newly derived germline-competent mouse parthenogenetic embryonic stem cell lines. Cell Res. 2007 Sep 4
  28. Zhang H, Zhang Q, Wang L, Chen H, Li Y, Cui T, Huang W, Zhang L, Yan F, Wang L, Xu Y, Hu L, Kong X. Association of IL4R gene polymorphisms with asthma in Chinese populations. Hum Mutat. 2007 Sep 6;28(10):1046
  29. Wang ZQ, Tian SH, Shi YZ, Zhou PT, Wang ZY, Shu RZ, Hu L, Kong X. A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family. Biochem Biophys Res Commun. 2007 Apr 6;355(2):312-7.
  30. Yufei Zhu, Wenxia Zhang, Zhenghao Huo, Yi Zhang, Yu Xia, Bo Li, Xiangyin Kong, Landian Hu. A novel locus for maternally inherited human gingival fibromatosis at chromosome 11p15. Hum Genet. 2007 Mar;121(1):113-123.
  31. Teng X, Yang J, Xie Y, Ni Z, Hu R, Shi L, Lin Z, Hu L, Zhao G, Ding X, Kong X. A novel spermatogenesis-specific uPAR gene expressed in human and mouse testis. Biochem Biophys Res Commun. 2006 Apr 21;342(4):1223-7.
  32. Sun BW, Yang AC, Feng Y, Sun YJ, Zhu Y, Zhang Y, Jiang H, Li CL, Gao FR, Zhang ZH, Wang WC, Kong XY, Jin G, Fu SJ, Jin Y. Temporal and parental-specific expression of imprinted genes in a newly derived Chinese human embryonic stem cell line and embryoid bodies. Hum Mol Genet. 2006 Jan 1;15(1):65-75.
  33. Ye L, Li X, Kong X, Wang W, Bi Y, Hu L, Cui B, Li X, Ning G. Hypomethylation in the promoter region of POMC gene correlates with ectopic overexpression in thymic carcinoids. J Endocrinol. 2005 May;185(2):337-43.
  34. Xue-Xia Miao, Shi-Jie Xu, Ming-Hui Li, Mu-Wang Li, Jian-Hua Huang, Fang-Yin Dai, Susan W. Marino, David R. Mills, Pei-Yu Zeng, Kazuei Mita, Shi-Hai Jia, Yong Zhang, Wen-Bing Liu, Hui Xiang, Qiu-Hong Guo, An-Ying Xu, Xiang-Yin Kong, Hong-Xuan Lin, Yao-Zhou Shi, Gang Lu, Xianglin Zhang, Wei Huang, Yuji Yasukochi, Toshiyuki Sugasaki, Toru Shimada, Javaregowda Nagaraju, Zhong-Huai Xiang, Sheng-Yue Wang, Marian R. Goldsmith, Chen Lu, Guo-Ping Zhao, Yong-Ping Huang. Simple Sequence Repeat-Based Consensus Linkage Map of Bombyx mori. Proc Natl Acad Sci U S A. 2005 Nov 8;102(45):16303-8.
  35. Pang JC, Chang Q, Chung YF, Teo JG, Poon WS, Zhou LF, Kong X, Ng HK. Epigenetic inactivation of DLC-1 in supratentorial primitive neuroectodermal tumor. Hum Pathol. 36(1):36-43. 2005
  36. Lu Y, Yu Y, Zhu Z, Xu H, Ji J, Bu L, Liu B, Jiang H, Lin Y, Kong X, Hu L. Identification of a new target region by loss of heterozygosity at 5p15.33 in sporadic gastric carcinomas: genotype and phenotype related. Cancer Lett. 224(2):329-37 2005
  37. Chinese SARS Molecular Epidemiology Consortium. Molecular evolution of the SARS coronavirus during the course of the SARS epidemic in China. Science. 303(5664):1666-9. 2004
  38. Wei S, Yang S, Lin D, Li M, Zhang X, Bu L, Zheng G, Hu L, Kong X, Zhang X. A novel locus for disseminated superficial porokeratosis maps to chromosome 18p11.3. J Invest Dermatol. 123(5):872-5 2004
  39. Yun Lu, Lei Bu, Shupei Zhou, Meilei Jin, John P. Sundberg, Haisong Jiang, Meiqian Qian, Yuefeng Shi, Guoping Zhao, Xiangyin Kong, Landian Hu. Scd1ab-Xyk: A new allelic asebia model due to a CCC trinucleotide insertion in exon 5 of stearoyl-CoA desaturase 1. Molecular Genetics and Genomics. 272(2):129-37 2004
  40. Bin Cui, Haibing Zhang, Yongzhong Lu, Wei Zhong, Gang Pei, Xiangyin Kong,Landian Hu. Refinement of the locus for non-syndromic sensorineural deafness (DFN2). Journal of Genetics. 2004 Apr;83(1):35-8
  41. Bin Cui, Yuming Sun,Yuqin Sun, Yuefeng Shi, Xiangyin Kong, Landian Hu. A genetic heterogeneity of Renpenning Syndrome mapped to chromosome Xq21-Xqter. Korean Journal of Genetics. 26(1): 73-76 2004.
  42. Zhu ZG, Yu YY, Zhang Y, Ji J, Zhang J, Liu BY, Chen XH, Lu Y, Jiang HS, Bu L, Hu LD, Kong XY. Germline mutational analysis of CDH1 and pathologic features in familial cancer syndrome with diffuse gastric cancer/breast cancer proband in a Chinese family. Eur J Surg Oncol. 2004 Jun;30(5):531-5.
  43. Zheng G, Hu L, Huang W, Chen K, Zhang X, Yang S, Sun J, Jiang Y, Luo G, Kong X. CYLD mutation causes multiple familial trichoepithelioma in three Chinese families. Hum Mutat. 23(4):400 2004
  44. Chang Q, Pang JC, Li J, Hu L, Kong X, Ng HK. Molecular analysis of PinX1 in medulloblastomas. Int J Cancer. 109(2):309-14. 2004
  45. Jiang H, Jin Y, Bu L, Zhang W, Liu J, Cui B, Kong X, Hu L. A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract. Mol Vis. 9:579-83. 2003
  46. Yu C, Meng X, Zhang S, Zhao G, Hu L, Kong X. A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family. Genomics. 82(5):575-9 (2003)
  47. Wang X, Liu J, Zhang H, Xiao M, Li J, Yang C, Lin X, Wu Z, Hu L, Kong X. Novel mutations in the IRF6 gene for Van der Woude syndrome. Hum Genet. 113(5):382-6 (2003)
  48. Hu LD, Zheng GY, Jiang HS, Xia Y, Zhang Y, Kong XY. Mutation analysis of 20 SARS virus genome sequences: evidence for negative selection in replicase ORF1b and spike gene. Acta Pharmacol Sin. 24(8):741-5 (2003)
  49. Chen Y, He ZX, Liu A, Wang K, Mao WW, Chu JX, Lu Y, Fang ZF, Shi YT, Yang QZ, Chen da Y, Wang MK, Li JS, Huang SL, Kong XY, Shi YZ, Wang ZQ, Xia JH, Long ZG, Xue ZG, Ding WX, Sheng HZ. Embryonic stem cells generated by nuclear transfer of human somatic nuclei into rabbit oocytes. Cell Res. 13(4):251-63 (2003)
  50. Wei SC, Yang S, Li M, Song YX, Zhang XQ, Bu L, Zheng GY, Kong XY, Zhang XJ. Identification of a locus for porokeratosis palmaris et plantaris disseminata to a 6.9-cM region at chromosome 12q24.1-24.2. Br J Dermatol. 149(2):261-7 (2003)
  51. Zhong W, Cui B, Zhang Y, Jiang H, Wei S, Bu L, Zhao G, Hu L, Kong X. Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22. J Hum Genet. 48(7):390-2. (2003)
  52. Li J, Hu LD, Wang WJ, Chen YG, Kong XY. Linkage analysis of the candidate genes of familial restless legs syndrome. Yi Chuan Xue Bao. 30(4):325-9 (2003)
  53. Shi YZ, Wang DP, Hu LD, Zhao GP, Wang YZ, Kong XY, Li SR. A High-resolution Genetic and Physical Map of a Mouse Coat Abnormity Locus (Uncv). Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai). 2003, 35:397-402.
  54. Zhang Y, Lu Y, Hu J, Kong X, Li B, Zhao G, Li M. Direct detection of mutation sites on stretched DNA by atomic force microscopy. Surface and Interface Analysis. 33 (2): 122-125 (2002).
  55. Bu L, Jin Y, Shi Y, Chu R, Ban A, Eiberg H, Andres L, Jiang H, Zheng G, Qian M, Cui B, Xia Y, Liu J, Hu L, Zhao G, Hayden MR, Kong X. Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. Nat Genet. 31:276-278 (2002).
  56. Bu L, Yan S, Jin M, Jin Y, Yu C, Xiao S, Xie Q, Hu L, Xie Y, Solitang Y, Liu J, Zhao G, Kong X. The gammaS-Crystallin Gene Is Mutated in Autosomal Recessive Cataract in Mouse. Genomics. 80:38-44 (2002).
  57. Xiao S, Bu L, Zhu L, Zheng G, Yang M, Qian M, Hu L, Liu J, Zhao G, Kong X. A new locus or hereditary gingival fibromatosis (GINGF2) maps to 5q13-q22. Genomics. 74:180-185 (2001).
  58. Xiao S, Yu C, Chou X, Yuan W, Wang Y, Bu L, Fu G, Qian M, Yang J, Shi Y, Hu L, Han B, Wang Z, Huang W, Liu J, Chen Z, Zhao G, Kong X. Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet. 27:201-204 (2001).
  59. Wang X, Shi Y, Ye Y, Liu F, Jin W, Chen W, Wang M, Hu L, Zhao G, Kong X. Study the relationship between steatocystoma Multiplex (SCM) and keratin 17 gene mutation Natl. Med. J. China 81: 540 (2001).
  60. Xiao S, Wang X, Qu B, Yang M, Liu G, Bu L, Wang Y, Zhu L, Lei H, Hu L, Zhang X, Liu J, Zhao G, Kong X. Refinement of the locus for autosomal dominant hereditary gingival fibromatosis (GINGF) to a 3.8-cM region on 2p21. Genomics. 68:247-252 (2000)
  61. *Hildmann T, *Kong X, O'Brien J, Riesselman L, Christensen HM, Dagand E, Lehrach H, Yaspo ML. A contiguous 3-Mb sequence-ready map in the S3-MX region on 21q22.2 based on high- throughput nonisotopic library screenings. Genome Res. 9:360-372 (1999).

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