分子遗传学研究组 研究组长 孔祥银
孔祥银 研究员 研究组长
学习经历
1983-1988 山东医科大学医学系学士
1992-1993 协和医科大学研究生院在职研究生学习
1995-1997 Max-Planck分子遗传学研究所访问学者
工作简历
1988-1995 中国医学科学院血液学研究所 研究实习员 助研
1997-2000 中科院上海生物工程研究中心 助研，副研
2000-2002 中科院上海生物工程研究中心 研究员
2002-至今 中科院上海生命科学院上海第二医科大学健康中心 研究员
荣誊(证书、称号、会员)
2002 国家自然科学奖二等奖
2003 上海市科学技术进步奖一等奖
主要成果
1、成功克隆了遗传性牙本质发育不全Ⅰ型基因（DSPP），并发现该基因的部分突变还引起进行性高频耳聋，证实了DSPP 不仅参与牙本质的发育，特别是牙本质的矿化过程， 还参与了听觉系统的发育，建立了牙齿发育和内耳发育之间的联系。从而为阐明相关疾病的发生机制奠定了基础，开辟了新的思路。研究论文发表在2001《Nature Genetics》。
2、成功克隆了遗传性儿童性白内障的致病基因热休克蛋白转录因子4（HSF4）。
在国际上首次发现热休克蛋白转录因子是导致遗传性儿童性白内障的致病基因，发现HSF4蛋白DNA结合区在白内障发生中具有重要作用，首次将热休克蛋白的合成与白内障的发生联系起来为该病的诊断和治疗提供了新的理论依据，加深了对白内障发生的分子机理认识。研究论文发表在2002《Nature Genetics》。
3. 在国际上首次发现CYLD基因突变引起遗传性毛发上皮瘤。
首次发现CYLD基因的不同突变突变引起遗传性毛发上皮瘤， 研究结果于2002年上海HGM2002会议公布，论文发表于2004年《Human Mutation》。
主要论文
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. Epub 2006 Feb 10.
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. Epub 2005 Nov 30.
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.
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.
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
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
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
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
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
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
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.
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.
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
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
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
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)
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)
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)
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)
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)
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)
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)
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.
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).
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).
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).
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).
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).
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).
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)
*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).
