Molecular dissection of the human Y-chromosome

被引:24
作者
Ali, S
Hasnain, SE
机构
[1] Natl Inst Immunol, New Delhi 110067, India
[2] Ctr DNA Fingerprinting & Diagnost, Hyderabad 500076, Andhra Pradesh, India
[3] Jawaharlal Nehru Ctr Adv Sci Res, Bangalore 560012, Karnataka, India
关键词
minisatellite; gonadoblastoma; Y-linked loci; DNA diagnostics; Turner syndrome; mutational load;
D O I
10.1016/S0378-1119(01)00860-5
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Human Y chromosome. earlier thought to he gene deficient. has attracted a great deal of attention owing to its supremacy in male sex determination and unique hapiotype status in the genome. Studies on Y chromosome have shown the presence of different types of satellite DNA and several genes implicated with a variety of phsical and physiological functions. The interaction of these repetitive DNA with genes in normal individuals and in patients with Y-chromosome-related genetic anomalies is still an unresolved issue and is actively being pursued. The fast changing scenario of the human genome project is likely to effect our overall understanding of the Y chromosome and Y-linked genetic anomalies in a big way. we provide a brief overview of the organization of Y chromosome with respect to several important loci encompassing both the arm,, and their likely involement/modulation in genetic anomalies. The experimental approaches discussed here are envisaged to be of clinical relevance for the molecular diagnosis of the Y-linked disorders. (C) 2002 Elsevier Science B.V. All rights reserved.
引用
收藏
页码:1 / 10
页数:10
相关论文
共 93 条
[1]   A SYNTHETIC OLIGONUCLEOTIDE PROBE (5'TTCCA 3')N UNCOVERS A MALE SPECIFIC HYBRIDIZATION PATTERN IN THE HUMAN GENOME [J].
ALI, S ;
GAURI ;
BALA, S .
MOLECULAR AND CELLULAR PROBES, 1992, 6 (06) :521-525
[2]   EVIDENCE THAT THE SRY PROTEIN IS ENCODED BY A SINGLE EXON ON THE HUMAN Y-CHROMOSOME [J].
BEHLKE, MA ;
BOGAN, JS ;
BEERROMERO, P ;
PAGE, DC .
GENOMICS, 1993, 17 (03) :736-739
[3]   GENETIC-EVIDENCE EQUATING SRY AND THE TESTIS-DETERMINING FACTOR [J].
BERTA, P ;
HAWKINS, JR ;
SINCLAIR, AH ;
TAYLOR, A ;
GRIFFITHS, BL ;
GOODFELLOW, PN ;
FELLOUS, M .
NATURE, 1990, 348 (6300) :448-450
[4]  
BRAUN A, 1993, AM J HUM GENET, V52, P578
[5]   A de novo mutation (Gln2Stop) at the 5′ end of the SRY gene leads to sex reversal with partial ovarian function [J].
Brown, S ;
Yu, CC ;
Lanzano, P ;
Heller, D ;
Thomas, L ;
Warburton, D ;
Kitajewski, J ;
Stadtmauer, L .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (01) :189-192
[6]  
Cameron FJ, 1997, HUM MUTAT, V9, P388
[7]   A mutation in the 5′ non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism [J].
Canto, P ;
de la Chesnaye, E ;
López, M ;
Cervantes, A ;
Chávez, B ;
Vilchis, F ;
Reyes, E ;
Ulloa-Aguirre, A ;
Kofman-Alfaro, S ;
Méndez, JP .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2000, 85 (05) :1908-1911
[8]   DELETED YQ IN THE STERILE SON OF A MAN WITH A SATELLITED Y-CHROMOSOME (YQS) [J].
CHANDLEY, AC ;
GOSDEN, JR ;
HARGREAVE, TB ;
SPOWART, G ;
SPEED, RM ;
MCBEATH, S .
JOURNAL OF MEDICAL GENETICS, 1989, 26 (03) :145-153
[9]   REPEATED SEQUENCE SPECIFIC TO HUMAN MALES [J].
COOKE, H .
NATURE, 1976, 262 (5565) :182-186
[10]   CHARACTERIZATION OF A HUMAN Y-CHROMOSOME REPEATED SEQUENCE AND RELATED SEQUENCES IN HIGHER PRIMATES [J].
COOKE, HJ ;
SCHMIDTKE, J ;
GOSDEN, JR .
CHROMOSOMA, 1982, 87 (05) :491-502