Molecular dissection of the human Y-chromosome

Gene

Volumn 283, Issue 1-2, 2002, Pages 1-10

  Ali, Sher ^a   Hasnain, Seyed Ehtesham ^a,b,c  

^a NATIONAL INSTITUTE OF IMMUNOLOGY   (India)

^b Center for DNA Fingerprinting and Diagnostics   (India)

^c JAWAHARLAL NEHRU CENTRE FOR ADVANCED SCIENTIFIC RESEARCH   (India)

Author keywords

DNA diagnostics; Gonadoblastoma; Minisatellite; Mutational load; Turner syndrome; Y linked loci

Indexed keywords

REPETITIVE DNA; SATELLITE DNA; TESTIS DETERMINING FACTOR;

CHROMOSOME ABERRATION; CHROMOSOME ARM; CHROMOSOME LOSS; GENE EXPRESSION; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GONADOBLASTOMA; HUMAN; LEUKEMIA; MALE INFERTILITY; MEDICAL GENETICS; MOLECULAR EVOLUTION; NONHUMAN; PARACRINE SIGNALING; POPULATION GENETICS; PRIORITY JOURNAL; SEX DETERMINATION; SHORT SURVEY; SPERM; SPERMATOGENESIS; Y CHROMOSOME;

EID: 0037160515     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-1119(01)00860-5     Document Type: Review

References (92)

1. A synthetic oligonucleotide probe (5′TTCCA 3′)n uncovers a male-specific hybridization pattern in the human genome
2. Evidence that the SRY protein is encoded by a single exon on the human Y chromosome
3. Genetic evidences equating SRY and the testis-determining factor
4. True hermaphroditism in a 46,XY individual, caused by a post-zygotic somatic point mutation in the male gonadal sex-determining locus (SRY): Molecular genetics and histological findings in a sporadic case
5. A de novo mutation (Gln2Stop) at the 5′ end of the SRY gene leads to sex reversal with partial ovarian function
6. Mutations in SRY and SOX9: Testis-determining genes
7. A mutation in the 5′ non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism
8. Deleted Yq in the sterile son of a man with a satellited Y chromosome (Yqs)
9. Repeated sequences specific to human males
10. Characterisation of a human Y chromosome repeated sequence and related sequences in higher primates
11. A novel missense mutation (S18N) in the 5′ non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives
12. Genetic control of primary sex determination in mice
13. Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for Turner syndrome
14. The human Y chromosome: Overlapping DNA clones spanning the euchromatic region
15. Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility
16. Y chromosome
17. Evolution of sex determination and the Y chromosome: SRY-related sequences in marsupials
18. Genomic distribution of 5′ TTCCA 3′ repeat motif and its diagnostic potential in human Y-chromosome-related anomalies
19. SRY and sex determination in mammals
20. Primers for the differential amplification of the sex-determining region Y gene in a range of mammal species
21. A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes
22. A recent insertion of an Alu element on the Y chromosome is a useful marker for human population studies
23. Y chromosomal DNA variation and the peopling of Japan
24. Molecular basis of mammalian sexual determination: Activation of Mullerian inhibiting substance gene expression by SRY
25. Determination of the DNA content of human chromosomes by flow cytometry
26. Mutational analysis of SRY in XY females
27. Mutational analysis of SRY: Nonsense and missense mutations in XY sex reversal
28. Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis
29. The human sex-determining gene SRY is a direct target of WT1
30. A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal
31. A novel sex-determining region on Y (SRY) missense mutation identified in a 46,XY female and also in the father
32. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY
33. A familial mutation in the testis-determining gene SRY shared by both sexes
34. Fathers and sons: The Y chromosome and human evolution
35. A map of 75 human ribosomal protein genes
36. Y chromosome loss in chronic myeloid leukemia detected in both normal and malignant cells by interphase fluorescence in situ hybridization
37. Molecular analysis of the genomic structure of the human Y chromosome in the euchromatic part of its long arm (Yq11)
38. Sex identification in fresh blood and dried bloodstains by a non-isotopic deoxyribonucleic acid (DNA) analyzing technique
39. Centromere of Y chromosome in Turner's syndrome
40. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
41. Functional coherence of the human Y chromosome
42. Transcription of the Y chromosomal gene, Sry, in adult mouse brain
43. Detection of Y-specific repeat sequences in normal and variant human chromosomes using in situ hybridization with biotinylated probes
44. Y chromosome polymorphisms in native American and Siberian populations: Identification of native American Y chromosome haplotypes
45. A Y chromosome gene family with RNA-binding protein homology: Candidates for the azoospermia factor AZF controlling human spermatogenesis
46. Highly informative compound haplotypes for the human Y chromosome
47. Sex determination and the Y chromosome
48. XY sex reversal associated with a deletion 5′ to the SRY 'HMG box' in the testis-determining region
49. Human evolution and the Y chromosome
50. Two Y-chromosome-specific restriction fragment length polymorphisms (DYS11 and DYZ8) in Italian and Greek migrants to Australia
51. Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: Point mutation in SRY causing sex-reversion in a 46,XY female
52. Localization of 24 cosmid clones on the human Y chromosome
53. PCR detection of distal Yp sequences in an XX true hermaphrodite
54. A human Y-chromosome specific repeated DNA family (DYZ1) consists of a tandem array of pentanucleotides
55. A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal
56. Hypothesis: A Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads
57. Genetic evidence that ZFY is not the testis-determining factor
58. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene
59. Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts
60. Role of c-kit in mammalian spermatogenesis
61. Molecular mapping of the putative gonadoblastoma locus on the Y chromosome
62. PCR haplotypes for the human Y chromosome based on alphoid satellite DNA variants and heteroduplex analysis
63. Polymorphic L1 retroposon insertion in the centromere of the human Y chromosome
64. Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome
65. Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: Report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor
66. Malignant potential of the dysgenetic gonad. Part 1
67. Malignant potential of the dysgenetic gonad. Part 2
68. A novel missense mutation (S18N) in the 5′ non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives
69. Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females
70. Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers
71. Differential structuring of human population for homologous X and Y microsatellite loci
72. Neoplasia associated with abnormal sexual development and abnormal sex chromosome
73. Male infertility: Nutritional and environmental considerations
74. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
75. An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y
76. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm
77. A physical map of the human Y chromosome
78. Gonadoblastoma: Molecular definition of the susceptibility region on the Y chromosome
79. Rapid evolution of the sex-determining locus in Old World mice and rats
80. Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype
81. Familial case with sequence variant in the testis-determining region associated with two sex phenotypes
82. Isolation of the sex-determining gene in men
83. Human chromosome deletions in Yq11, AZF candidate genes and male infertility: History and update
84. Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene
85. Human Y chromosome azoospermia factors (AZF) mapped to different sub-regions in Yq11
86. The human Y chromosome: A 43-interval map based on naturally occurring deletions
87. 'Paracrine' control of spermatogenesis
88. Rapid sequence evolution of the mammalian sex-determining gene SRY
89. A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis
90. Two SRY-negative XX male brothers without genital ambiguity
91. Turner syndrome and haploinsufficiency
92. Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1