The higher prevalence of certain diseases among women suggests involvement of genetic mechanisms linked to the sex chromosomes or of sex-limited gene expression that may be developmentally or hormonally regulated. Analysis of genetic markers and gene expression patterns provides the means for testing hypotheses related to these mechanisms.
Mendel G.Versuche über Pflanzen-Hybriden . Ver Natur Vere Brü1865; 4: 3-47 .
2.
Correns C. G.Mendel's Regel über das Verhalten der Nachkommenschaft der Rassenbastarde . Ber Deut Botan Gessel1900; 18: 158-168 .
3.
De Vries H.Sur la loi de disjonction des hybrides . Acad Sci Paris1900; 130: 845-847 .
4.
Tschermak E.Uber kunstliche Kreuzung bei Pisum sativum . Zts f d landw Versuchsw in Osterr1900; 3: 5-5 .
5.
Wilson EB . The sex chromosomes . Arch Mikrosk Anat Enwicklungsmech1911; 77: 249-271 .
6.
Morgan TH , Sturtevant AH , Muller HJ , Bridges CB . The Mechanism of Mendelian Inheritance. Henry Holt: New York , 1915.
7.
Bell J , Haldane JBS . The linkage between the genes for color-blindness and haemophilia in men . Proc R Soc Lond1937; 123: 119-150 .
8.
Ostrer H . Non-Mendelian Genetics in Humans, Oxford University Press: New York , 1998.
9.
Imai Y , Moriwaki D . A probable case of cytoplasmic inheritance in man: a critique of Leber's disease . J Genet Hum1936; 33: 136-167 .
10.
Ephrussi B , Hotinguer H . Direct demonstration of the mutagenic action of euflavine on baker's yeast . Nature1950; 166: 956-956 .
11.
Clayton DA , Vinograd J . Circular dimer and catenate forms of mitochondrial DNA in human leukaemic leukocytes . Nature1967; 216: 652-657 .
12.
Crouse HV . The controlling element in sex chromosome behavior in sciara . Genetics1960; 45: 1429-1443 .
13.
Solter D . Differential imprinting and expression of maternal and paternal genomes . Annu Rev Genet1988; 22: 127-146 .
14.
Norris ML , Barton SC , Surani MA . The differential roles of parental genomes in mammalian development . Ox Rev Reprod Biol1990; 12: 225-244 .
15.
Searle AG , Peters J , Lyon MF et al. Chromosome maps of man and mouse. IV . Ann Hum Genet1989; 53: 89-140 .
16.
Sapienza C , Peterson AC , Rossant J , Balling R . Degree of methylation of transgenes is dependent on gamete of origin . Nature1987; 328: 251-254 .
17.
Reik W , Collick A , Norris ML et al. Genomic imprinting determines methylation of parental alleles in transgenic mice . Nature1987; 328: 248-251 .
18.
Kitsberg D , Selig S , Brandeis M et al. Allele-specific replication timing of imprinted gene regions . Nature1993; 364: 459-463 .
19.
Buiting K , Saitoh S , Gro S et al. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting center on human chromosome 15 . Nature Genet1995; 9: 395-400 .
20.
Jawaheer D , MacGregor AJ , Gregersen PK et al. Unexpected HLA haplotype sharing in dizygotic twin pairs discordant for rheumatoid arthritis . J Med Genet1996; 33: 1015-1018
21.
Carey N , Johnson K , Nokelainen P et al. Meiotic drive at the myotonic dystrophy locus?Nature Genet1994; 6: 117-118 .
22.
Ikeuchi T , Igarashi S , Takiyama Y et al. Non-Mendelian transmission in dentatorubral-pallidolusian atrophy and Marchado-Joseph disease: the mutant allele is preferential transmitted in male meiosis . Am J Hum Genet1996; 58: 730-733 .
23.
Hulten M , Lindsten J , Ming PM , Fracaro M . The XY bivalent in human male meiosis . Ann Hum Genet1966; 30: 119-123 .
24.
Simmler M , Rouyer F , Vergnaud G et al. Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes . Nature1985; 317: 692-697 .
25.
Lahn BT , Page DC . Functional coherence of the human Y chromosome . Science1997; 278: 675-680 .
26.
Sinclair AH , Berta P , Palmer MS et al. A gene from the human sexdetermining region encodes a protein with homology to a conserved DNA-binding motif . Nature1990; 346: 240-244 .
27.
Gubbay J , Collignon J , Koopman P et al. A gene mapping to the sexdetermining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes . Nature1990; 346: 245-250 .
28.
Ma K , Sharkey A , Kirsch S et al. Towards the molecular localisation of the AZF locus: Mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome . Hum Molec Genet1992; 1: 29-33 .
29.
Vogt P , Chandley AC , Hargreave TB et al. Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene . Hum Genet1992; 89: 491-496 .
30.
Henegariu O , Hirschmann P , Kilian P et al. Rapid screening of the Y chromosome in idiopatic sterile men, diagnstic for deletion in AZF, a genetic Y-factor expressed during spermatogenesis . Andrologia1994; 26: 97-106 .
31.
Kobayashi K , Mizuno K , Hida A et al. PCR analysis of the Y chromosome long arm, in azospermic patients: evidence for a second locus required for spermatogenesis . Hum Mol Genet1994; 3: 1965-1967 .
32.
Ogata T , Tomita K , Hida A et al. Chromosomal localisation of a Y specific growth gene(s) . J Med Genet1995; 32: 572-575 .
33.
Tsuchiya K , Reijo R , Page DC , Disteche CM . Gonadoblastoma: Molecular definition of the susceptibility region on the Y chromosome . Am J Hum Genet1995; 57: 1400-1407 .
34.
Ogata T , Tyler-Smith C , Purvis-Smith S , Turner G . Chromosomal localization of a gene(s) for Turner stigmata on Yp . J Med Genet1993; 30: 918-922 .
35.
Arnemann J , Epplen J , Cooke H et al. A human Y-chromosomal DNA sequence expessed in testicular tissue . Nucleic Acids Res1987; 15: 8713-8724 .
36.
Klink A , Schiebel K , Winkelmann M et al. The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability . Hum Mol Genet1995; 4: 869-878 .
37.
Ellis N , Ye T , Patton S , Weller P . PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on Xp, and PBDY, a Y-specific duplication of PBDX, on Yq . Cytogenet Cell Genet1994; 67: 390-391 .
38.
Ellis NA , Tippett P , Petty A et al. PBDX is the XG blood group gene . Nature Genet1994; 8: 285-290 .
39.
Weller PA , Critcher R , Goodfellow PN et al. The human Y-chromosome homolog of XG-Transcription of a naturally trunacted gene . Hum Mol Genet1995; 2: 1853-1856 .
40.
McKusick VA . Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. 12th ed.Johns Hopkins University Press: Baltimore, MD , 1998.
41.
Spano LM , Opitz JM . Bibliography on X-linked mental retardation, the fragile X and related subjects IV . Am J Med Genet1988; 30: 31-60 .
42.
Neri G , Chiurazzi P , Arena F et al. XLMR genes: update 1992 . Am J Med Genet1992; 43: 373-382 .
43.
Pfeiffer RA . Zur Frage der Vererbung der Incontinentia pigmenti Bloch-Siemens . Z Menschl Vererb Konstitutionsl1960; 35: 469-493 .
44.
Lenz W . Zur Genetik der Incontinentia pigmenti . Ann Paediat1961; 196: 149-165 .
45.
Hagberg B , Aicardi J , Dias K , Ramos O . A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases . Ann Neurol1983; 14: 471-479 .
46.
Al Gazali LI , Mueller RF , Caine A , et al. Two 46, XX, t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp223 . J Med Genet1990; 27: 59-63 .
47.
Lindsay EA , Grillo A , Ferrero GB et al. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization . Am J Med Genet1994; 49: 229-234 .
48.
Aicardi J , Chevrie JJ , Rousselie F . Le syndrome spasmes en flexion, agenesic calleluse, anomalies chorio-retiniennes . Arch Franc Pediat1969; 26: 1103-1120 .
49.
Lyon MF . Sex chromatin and gene action in the mammalian X-chromosome . Am J Hum Genet1962; 14: 135-148 .
50.
Russell LB . Mammalian X-chromosome action: inactivation limited in spread and in region of origin . Science1963; 133: 1795-1803 .
51.
Schneider-Gadicke A , Beer-Romero P , Brown LG et al. ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation . Cell1989; 57: 1247-1258 .
52.
Naumova AK , Olien L , Bird LM et al. Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human . Eur J Hum Genet1998; 6: 552-562 .
53.
Allen RC , Nachtman RG , Rosenblatt HM , Belmont JW . Application of carrier testing to genetic counseling for X-linked agammaglobulinemia . Am J Hum Genet1994; 54: 25-35 .
54.
Conley ME , Brown P , Pickard AR et al. Expression of the gene defect in x-linked agammaglobulinemia . N Engl J Med1986; 315: 564-567 .
55.
Fialkow PJ . Primordial cell pool size and lineage relationships of five human cell types . Am J Hum Genet1973; 37: 39-48 .
56.
Richards CS , Watkins SC , Hoffman EP et al. Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy . Am J Hum Genet1990; 46: 672-681 .
57.
Gale RE , Wheadon H , Boulos P , Linch DC . Tissue-specificity of X-chromosome inactivation patterns . Blood1994; 83: 2899-2905 .
58.
Zabel BU , Baumann WA , Pirntke W , Gerhard-Ratschow K . X-inactivation pattern in three cases of X/autosome translocation . Am J Med Genet1978; 1: 309-317 .
59.
Migeon BR , Moser HW , Moser AB et al. Adrenoleukodystrophy: Evidence for X linkage, inactivation, and selection favoring the mutant allelle in heterozygous cells . Proc Natl Acad Sci USA1981; 78: 5066-5970 .
60.
Hanley NA , Ball SG , Clement-Jones M et al. Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination. Mech Dev submitted.
61.
Hanley NA , Hagan DM , Clement-Jones M et al. Human-mouse differences in SRY, SOX9, and DAX1 expression patterns during sex determination provide novel insights into associated human sex reversal phenotypes. Am J Hum Genet, submitted.
62.
Roy AK , Chatterjee B . Androgen action . Crit Rev Eukaryot Gene Expr1995; 5: 157-176 .
63.
Duggan DJ , Bittner M , Chen Y et al. Expression profiling using cDNA microarrays . Nature Genet1999; 21 (Suppl 1): S10-S14 .
