메뉴 건너뛰기




Volumn 8, Issue 3, 1998, Pages 322-327

Turner syndrome and haploinsufficiency

Author keywords

[No Author keywords available]

Indexed keywords

HAPLOIDY; HUMAN; MONOSOMY X; PHENOTYPE; PRIORITY JOURNAL; REVIEW; TURNER SYNDROME;

EID: 0032103696     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-437X(98)80089-0     Document Type: Article
Times cited : (104)

References (48)
  • 1
    • 0018145013 scopus 로고
    • Un cas de rétinoblastome bilatéral avec monosomie 13 partielle (q12→q14)
    • [Title translation:
    • Walbaum R, François P, Farriaux J-P, Woillez M. Un cas de rétinoblastome bilatéral avec monosomie 13 partielle (q12→q14). [Title translation: Hum Genet. 44:1978;219-226.
    • (1978) Hum Genet , vol.44 , pp. 219-226
    • Walbaum, R.1    François, P.2    Farriaux, J.-P.3    Woillez, M.4
  • 2
    • 0004243595 scopus 로고
    • [Title translation: New York: Academic Press
    • [Title translation: Hamerton J. Human Cytogenetics. 2:1971;Academic Press, New York.
    • (1971) Human Cytogenetics , vol.2
    • Hamerton, J.1
  • 3
    • 0003455528 scopus 로고
    • Ashburner M. Cold Spring Harbor, NY: Cold Spring Harbor Press
    • Ashburner M. Drosophila, a laboratory handbook. 1989;Cold Spring Harbor Press, Cold Spring Harbor, NY.
    • (1989) Drosophila, a Laboratory Handbook
  • 4
    • 0000834094 scopus 로고
    • The origin of variations in sexual and sex-limited characters
    • Bridges C. The origin of variations in sexual and sex-limited characters. Am Naturalist. 56:1922;51-63.
    • (1922) Am Naturalist , vol.56 , pp. 51-63
    • Bridges, C.1
  • 5
    • 0028058986 scopus 로고
    • Human haploinsufficiency - One for sorrow, two for joy
    • Fisher E, Scambler P. Human haploinsufficiency - one for sorrow, two for joy. Nat Genet. 7:1994;5-7.
    • (1994) Nat Genet , vol.7 , pp. 5-7
    • Fisher, E.1    Scambler, P.2
  • 6
    • 0029021639 scopus 로고
    • Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical features
    • Ogata T, Matsuo N. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet. 95:1995;607-629.
    • (1995) Hum Genet , vol.95 , pp. 607-629
    • Ogata, T.1    Matsuo, N.2
  • 7
    • 0024146895 scopus 로고
    • Mechanisms of the effects of aneuploidy in mammals
    • Epstein CJ. Mechanisms of the effects of aneuploidy in mammals. Annu Rev Genet. 22:1988;51-75.
    • (1988) Annu Rev Genet , vol.22 , pp. 51-75
    • Epstein, C.J.1
  • 8
    • 0031036182 scopus 로고    scopus 로고
    • Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy
    • of special interest. Report of a 46,XX girl with X-linked Duchenne muscular dystrophy caused by a homozygous DMD deletion resulting from maternal isodisomy for the entire X chromosome. The girl had no stigmata of Turner syndrome or other phenotypic abnormalities apart from muscular dystrophy, arguing against maternal X chromosome imprinting effects.
    • Quan F, Janas J, Toth-Fejel S, Johnson DB, Wolford JK, Popovich BW. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. of special interest Am J Hum Genet. 60:1997;160-165 Report of a 46,XX girl with X-linked Duchenne muscular dystrophy caused by a homozygous DMD deletion resulting from maternal isodisomy for the entire X chromosome. The girl had no stigmata of Turner syndrome or other phenotypic abnormalities apart from muscular dystrophy, arguing against maternal X chromosome imprinting effects.
    • (1997) Am J Hum Genet , vol.60 , pp. 160-165
    • Quan, F.1    Janas, J.2    Toth-Fejel, S.3    Johnson, D.B.4    Wolford, J.K.5    Popovich, B.W.6
  • 9
    • 0027475040 scopus 로고
    • Turner syndrome - The case of the missing sex chromosome
    • Zinn AR, Page DC, Fisher EMC. Turner syndrome - the case of the missing sex chromosome. Trends Genet. 9:1993;90-93.
    • (1993) Trends Genet , vol.9 , pp. 90-93
    • Zinn, A.R.1    Page, D.C.2    Fisher, E.M.C.3
  • 10
    • 0030725069 scopus 로고    scopus 로고
    • Functional coherence of the human Y chromosome
    • of outstanding interest. A tour de force using the technique of direct selection to systematically identify human Y-specific genes yielded 12 novel genes or families. Five of these had closely related X-linked homologs that all escaped X-inactivation, providing a new set of candidate Turner syndrome genes. Like the previously identified ZFX/ZFY and RPS4X/RPS4Y genes, the five new X-Y genes are all ubiquitously transcribed and probably encode housekeeping genes. Unfortunately, none of the Y-linked homologs maps to distal Yp, the region most likely to contain the elusive Turner syndrome lymphedema gene. The authors suggest that haploinsufficiency of housekeeping genes may cause the poor viability of 45,X embryos. The seven new Y-linked genes without X homologs were all testis-specific and may function in spermatogenesis.
    • Lahn B, Page D. Functional coherence of the human Y chromosome. of outstanding interest Science. 278:1997;675-680 A tour de force using the technique of direct selection to systematically identify human Y-specific genes yielded 12 novel genes or families. Five of these had closely related X-linked homologs that all escaped X-inactivation, providing a new set of candidate Turner syndrome genes. Like the previously identified ZFX/ZFY and RPS4X/RPS4Y genes, the five new X-Y genes are all ubiquitously transcribed and probably encode housekeeping genes. Unfortunately, none of the Y-linked homologs maps to distal Yp, the region most likely to contain the elusive Turner syndrome lymphedema gene. The authors suggest that haploinsufficiency of housekeeping genes may cause the poor viability of 45,X embryos. The seven new Y-linked genes without X homologs were all testis-specific and may function in spermatogenesis.
    • (1997) Science , vol.278 , pp. 675-680
    • Lahn, B.1    Page, D.2
  • 11
    • 0029126650 scopus 로고
    • Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: Further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s)
    • Ogata T, Yoshizawa A, Muroya K, Matsuo N, Fukushima Y, Rappold G, Yokoya S. Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s). J Med Genet. 32:1995;831-834.
    • (1995) J Med Genet , vol.32 , pp. 831-834
    • Ogata, T.1    Yoshizawa, A.2    Muroya, K.3    Matsuo, N.4    Fukushima, Y.5    Rappold, G.6    Yokoya, S.7
  • 12
    • 0029845509 scopus 로고    scopus 로고
    • Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22-Yq11 translocation
    • Joseph M, Cantu ES, Pai GS, Willi SM, Papenhausen PR, Weiss L. Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22-Yq11 translocation. J Med Genet. 33:1996;906-911.
    • (1996) J Med Genet , vol.33 , pp. 906-911
    • Joseph, M.1    Cantu, E.S.2    Pai, G.S.3    Willi, S.M.4    Papenhausen, P.R.5    Weiss, L.6
  • 14
    • 0030926667 scopus 로고    scopus 로고
    • Molecular studies of an X-Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height
    • of special interest. Normal height in an XY female with a deletion of one copy of the pseudoautosomal region suggests that Y-linked growth promoting gene(s) (GCY) may compensate for SHOX/PHOG haploinsufficiency. An alternative explanation is variable penetrance.
    • Spranger S, Kirsch S, Mertz A, Schiebel K, Tariverdian G, Rappold GA. Molecular studies of an X-Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height. of special interest Clin Genet. 51:1997;346-350 Normal height in an XY female with a deletion of one copy of the pseudoautosomal region suggests that Y-linked growth promoting gene(s) (GCY) may compensate for SHOX/PHOG haploinsufficiency. An alternative explanation is variable penetrance.
    • (1997) Clin Genet , vol.51 , pp. 346-350
    • Spranger, S.1    Kirsch, S.2    Mertz, A.3    Schiebel, K.4    Tariverdian, G.5    Rappold, G.A.6
  • 15
    • 0030940217 scopus 로고    scopus 로고
    • Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and turner-syndrome
    • of outstanding interest. See annotation [16].
    • Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and turner-syndrome. of outstanding interest Nat Genet. 16:1997;54-63 See annotation [16].
    • (1997) Nat Genet , vol.16 , pp. 54-63
    • Rao, E.1    Weiss, B.2    Fukami, M.3    Rump, A.4    Niesler, B.5    Mertz, A.6    Muroya, K.7    Binder, G.8    Kirsch, S.9    Winkelmann, M.10
  • 16
    • 0030877094 scopus 로고    scopus 로고
    • PHOG, a candidate gene for involvement in the short stature of Turner syndrome
    • of outstanding interest. Elegant positional cloning of a candidate Turner syndrome short stature gene, SHOX/PHOG. Both groups [15,16] used exon trapping to isolate coding sequences from the pseudoautosomal short stature critical region, which Rao et al. [15] narrowed to 170 kb. The gene they found encodes a homeodomain transcription factor with greatest expression in osteogenic cells, making a strong circumstantial case for its involvement in linear growth. Rao et al., also found a point mutation cosegregating with short stature in an otherwise normal family.
    • Ellison J, Wardak Z, Young M, Robey P, Laigwebster M, Chiong W. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. of outstanding interest Hum Mol Genet. 6:1997;1341-1347 Elegant positional cloning of a candidate Turner syndrome short stature gene, SHOX/PHOG. Both groups [15,16] used exon trapping to isolate coding sequences from the pseudoautosomal short stature critical region, which Rao et al. [15] narrowed to 170 kb. The gene they found encodes a homeodomain transcription factor with greatest expression in osteogenic cells, making a strong circumstantial case for its involvement in linear growth. Rao et al., also found a point mutation cosegregating with short stature in an otherwise normal family.
    • (1997) Hum Mol Genet , vol.6 , pp. 1341-1347
    • Ellison, J.1    Wardak, Z.2    Young, M.3    Robey, P.4    Laigwebster, M.5    Chiong, W.6
  • 17
    • 84984767030 scopus 로고    scopus 로고
    • Growing interest in Turner syndrome
    • Zinn AR. Growing interest in Turner syndrome. Nat Genet. 16:1997;3-4.
    • (1997) Nat Genet , vol.16 , pp. 3-4
    • Zinn, A.R.1
  • 19
    • 0025283641 scopus 로고
    • Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female
    • Page DC, Fisher EM, McGillivray B, Brown LG. Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female. Nature. 346:1990;279-281.
    • (1990) Nature , vol.346 , pp. 279-281
    • Page, D.C.1    Fisher, E.M.2    McGillivray, B.3    Brown, L.G.4
  • 20
    • 0027451873 scopus 로고
    • Chromosomal localisation of a gene(s) for Turner stigmata on Yp
    • Ogata T, Tyler-Smith C, Purvis-Smith S, Turner G. Chromosomal localisation of a gene(s) for Turner stigmata on Yp. J Med Genet. 30:1993;918-922.
    • (1993) J Med Genet , vol.30 , pp. 918-922
    • Ogata, T.1    Tyler-Smith, C.2    Purvis-Smith, S.3    Turner, G.4
  • 21
    • 0030806302 scopus 로고    scopus 로고
    • Zfx mutation results in small animal size and reduced germ cell number in male and female mice
    • of outstanding interest. Ever since the demise of ZFY as the testis-determining factor, the function of the ZFX/ZFY genes has been enigmatic. Arguments have been made for and against a role for these genes in Turner syndrome. To address these issues, Luoh et al. knocked out the mouse Zfx gene. The phenotype was reduced viability, growth failure, and reduced numbers of primordial and adult germ cells in mutant mice of both sexes. The pathophysiology of observed defects was unclear. Homozygous females were more severely affected than heterozygotes. Although the authors point out the ovarian histology of their knockout mice resembles that of girls with Turner syndrome, it remains to be seen whether Zfx mutant mice show accelerated oocyte atresia during midgestation as occurs in 45,X humans. The findings nevertheless support the involvement of ZFX/ZFY haploinsufficiency in the viability, growth, or gonadal phenotypes of Turner syndrome.
    • Luoh SW, Bain PA, Polakiewicz RD, Goodheart ML, Gardner H, Jaenisch R, Page DC. Zfx mutation results in small animal size and reduced germ cell number in male and female mice. of outstanding interest Development. 124:1997;2275-2284 Ever since the demise of ZFY as the testis-determining factor, the function of the ZFX/ZFY genes has been enigmatic. Arguments have been made for and against a role for these genes in Turner syndrome. To address these issues, Luoh et al. knocked out the mouse Zfx gene. The phenotype was reduced viability, growth failure, and reduced numbers of primordial and adult germ cells in mutant mice of both sexes. The pathophysiology of observed defects was unclear. Homozygous females were more severely affected than heterozygotes. Although the authors point out the ovarian histology of their knockout mice resembles that of girls with Turner syndrome, it remains to be seen whether Zfx mutant mice show accelerated oocyte atresia during midgestation as occurs in 45,X humans. The findings nevertheless support the involvement of ZFX/ZFY haploinsufficiency in the viability, growth, or gonadal phenotypes of Turner syndrome.
    • (1997) Development , vol.124 , pp. 2275-2284
    • Luoh, S.W.1    Bain, P.A.2    Polakiewicz, R.D.3    Goodheart, M.L.4    Gardner, H.5    Jaenisch, R.6    Page, D.C.7
  • 22
    • 0029930189 scopus 로고    scopus 로고
    • Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata
    • Report of a 46,XY boy with striking Turner-like abnormalities, including short stature, aortic coarctation, renal hypoplasia, webbed neck, and hypoplastic nails. The authors propose that mutation of a putative Turner syndrome 'lymphedema' gene could explain the constellation of abnormalities in this patient but they failed to find any Y chromosomal deletions or gross rearrangements of the ZFX or ZFY genes.
    • Hasegawa T, Ogata T, Hasegawa Y, Honda M, Nagai T, Fukushima Y, Nakahori Y, Matsuo N. Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata. Hum Genet. 97:1996;564-567 Report of a 46,XY boy with striking Turner-like abnormalities, including short stature, aortic coarctation, renal hypoplasia, webbed neck, and hypoplastic nails. The authors propose that mutation of a putative Turner syndrome 'lymphedema' gene could explain the constellation of abnormalities in this patient but they failed to find any Y chromosomal deletions or gross rearrangements of the ZFX or ZFY genes.
    • (1996) Hum Genet , vol.97 , pp. 564-567
    • Hasegawa, T.1    Ogata, T.2    Hasegawa, Y.3    Honda, M.4    Nagai, T.5    Fukushima, Y.6    Nakahori, Y.7    Matsuo, N.8
  • 23
    • 0029994366 scopus 로고    scopus 로고
    • Turner syndrome: A study of chromosomal mosaicism
    • of special interest
    • of special interest Fernandez R, Mendez J, Pasaro E. Turner syndrome: a study of chromosomal mosaicism. Hum Genet. 98:1996;29-35.
    • (1996) Hum Genet , vol.98 , pp. 29-35
    • Fernandez, R.1    Mendez, J.2    Pasaro, E.3
  • 25
    • 0026800855 scopus 로고
    • Molecular studies of parental origin and mosaicism in 45,X conceptuses
    • Hassold T, Pettay D, Robinson A, Uchida I. Molecular studies of parental origin and mosaicism in 45,X conceptuses. Hum Genet. 89:1992;647-652.
    • (1992) Hum Genet , vol.89 , pp. 647-652
    • Hassold, T.1    Pettay, D.2    Robinson, A.3    Uchida, I.4
  • 26
    • 0026531326 scopus 로고
    • Mosaicism in 45,X Turner syndrome: Does survival in early pregnancy depend on the presence of two sex chromosomes?
    • Held KR, Kerber S, Kaminsky E, Singh S, Goetz P, Seemanova E, Goedde HW. Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet. 88:1992;288-294.
    • (1992) Hum Genet , vol.88 , pp. 288-294
    • Held, K.R.1    Kerber, S.2    Kaminsky, E.3    Singh, S.4    Goetz, P.5    Seemanova, E.6    Goedde, H.W.7
  • 27
    • 0029112672 scopus 로고
    • A "balanced" Y;16 translocation associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene on the Y chromosome
    • Erickson RP, Hudgins L, Stone JF, Schmidt S, Wilke C, Glover TW. A "balanced" Y;16 translocation associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene on the Y chromosome. Cytogenet Cell Genet. 71:1995;163-167.
    • (1995) Cytogenet Cell Genet , vol.71 , pp. 163-167
    • Erickson, R.P.1    Hudgins, L.2    Stone, J.F.3    Schmidt, S.4    Wilke, C.5    Glover, T.W.6
  • 28
    • 0025633118 scopus 로고
    • Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for Turner syndrome
    • Fisher EM, Beer RP, Brown LG, Ridley A, McNeil JA, Lawrence JB, Willard HF, Bieber FR, Page DC. Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome. Cell. 63:1990;1205-1218.
    • (1990) Cell , vol.63 , pp. 1205-1218
    • Fisher, E.M.1    Beer, R.P.2    Brown, L.G.3    Ridley, A.4    McNeil, J.A.5    Lawrence, J.B.6    Willard, H.F.7    Bieber, F.R.8    Page, D.C.9
  • 29
  • 31
    • 0025881630 scopus 로고
    • X-chromosome inactivation may explain the difference in viability of XO humans and mice
    • Ashworth A, Rastan S, Lovell-Badge R, Kay G. X-chromosome inactivation may explain the difference in viability of XO humans and mice. Nature. 351:1991;406-408.
    • (1991) Nature , vol.351 , pp. 406-408
    • Ashworth, A.1    Rastan, S.2    Lovell-Badge, R.3    Kay, G.4
  • 33
    • 0027161001 scopus 로고
    • Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome
    • Watanabe M, Zinn AR, Page DC, Nishimoto T. Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome. Nat Genet. 4:1993;268-271.
    • (1993) Nat Genet , vol.4 , pp. 268-271
    • Watanabe, M.1    Zinn, A.R.2    Page, D.C.3    Nishimoto, T.4
  • 34
    • 0028231417 scopus 로고
    • Structure and function of ribosomal protein S4 genes on the human and mouse sex chromosomes
    • Zinn AR, Alagappan RK, Brown LG, Wool I, Page DC. Structure and function of ribosomal protein S4 genes on the human and mouse sex chromosomes. Mol Cell Biol. 14:1994;2485-2492.
    • (1994) Mol Cell Biol , vol.14 , pp. 2485-2492
    • Zinn, A.R.1    Alagappan, R.K.2    Brown, L.G.3    Wool, I.4    Page, D.C.5
  • 35
    • 0027375457 scopus 로고
    • A 45,X male with an X;Y translocation: Implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata
    • Weil D, Portnoi MF, Levilliers J, Wang I, Mathieu M, Taillemite JL, Meier M, Boudailliez B, Petit C. A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata. Hum Mol Genet. 2:1993;1853-1856.
    • (1993) Hum Mol Genet , vol.2 , pp. 1853-1856
    • Weil, D.1    Portnoi, M.F.2    Levilliers, J.3    Wang, I.4    Mathieu, M.5    Taillemite, J.L.6    Meier, M.7    Boudailliez, B.8    Petit, C.9
  • 36
    • 0026499499 scopus 로고
    • Absence of Turner stigmata in a 46,XYp- female
    • Myller U, Kirkels V, Scheres J. Absence of Turner stigmata in a 46,XYp- female. Hum Genet. 90:1992;239-242.
    • (1992) Hum Genet , vol.90 , pp. 239-242
    • Myller, U.1    Kirkels, V.2    Scheres, J.3
  • 37
    • 0030048226 scopus 로고    scopus 로고
    • Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X
    • of special interest. Quantitative studies of RPS4X expression in four Turner syndrome subjects with isochromosomes (karyotype 46,X,i(Xq)). Isochromosomes represent a short arm deletion and long arm duplication, resulting in three copies of the RPS4X gene per cell. The authors tried to exclude mosaicism, a particular problem with isochromosomes, by examining at least 30 metaphases in two tissues. Expression of RPS4X RNA was increased by approximately ≈50% in isochromosome patients' fibroblasts as compared to 46,XX controls, concordant with the increase in gene dosage. The authors concluded that haploinsufficiency of RPS4X cannot account for the Turner syndrome features seen in these patients - which included short stature, gonadal failure, and typical anatomic abnormalities. They did not address the possible role of S4 haploinsufficiency in the poor viability associated with the 45,X karyotype.
    • Geerkens C, Just W, Held KR, Vogel W. Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X. of special interest Hum Genet. 97:1996;39-44 Quantitative studies of RPS4X expression in four Turner syndrome subjects with isochromosomes (karyotype 46,X,i(Xq)). Isochromosomes represent a short arm deletion and long arm duplication, resulting in three copies of the RPS4X gene per cell. The authors tried to exclude mosaicism, a particular problem with isochromosomes, by examining at least 30 metaphases in two tissues. Expression of RPS4X RNA was increased by approximately ≈50% in isochromosome patients' fibroblasts as compared to 46,XX controls, concordant with the increase in gene dosage. The authors concluded that haploinsufficiency of RPS4X cannot account for the Turner syndrome features seen in these patients - which included short stature, gonadal failure, and typical anatomic abnormalities. They did not address the possible role of S4 haploinsufficiency in the poor viability associated with the 45,X karyotype.
    • (1996) Hum Genet , vol.97 , pp. 39-44
    • Geerkens, C.1    Just, W.2    Held, K.R.3    Vogel, W.4
  • 38
    • 0030023276 scopus 로고    scopus 로고
    • Relationship between the monosomy X phenotype and Y-linked ribosomal protein S4 (Rps4) in several species of mammals: A molecular evolutionary analysis of Rps4 homologs
    • of special interest. 'Noah's Ark' blots [18] of human, monkey, mouse, cat, dog, horse, pig, and cow DNA molecules showed clear evidence for Y-linked RPS4 homologs only in primates. The experiments were hampered by the presence of numerous pseudogenes. Y-homologous sequences could be amplified by RT-PCR only from human and monkey RNA, consistent with the absence of functional Y homologs in other species. RPS4 transcripts from various species were sequenced and the data used for phylogenetic analysis. The results suggested that X- and Y-linked S4 homologs began diverging prior to the radiation of placental mammals and evolved independently, with RPS4X under greater functional constraint than RPS4Y. These evolutionary data contrast with the results of Watanabe et al. [33] and Zinn et al. [34] that human RPS4Y is incorporated into ribosomes in vivo and functions interchangeably with RPS4X in cultured cells.
    • Omoe K, Endo A. Relationship between the monosomy X phenotype and Y-linked ribosomal protein S4 (Rps4) in several species of mammals: a molecular evolutionary analysis of Rps4 homologs. of special interest Genomics. 31:1996;44-50 'Noah's Ark' blots [18] of human, monkey, mouse, cat, dog, horse, pig, and cow DNA molecules showed clear evidence for Y-linked RPS4 homologs only in primates. The experiments were hampered by the presence of numerous pseudogenes. Y-homologous sequences could be amplified by RT-PCR only from human and monkey RNA, consistent with the absence of functional Y homologs in other species. RPS4 transcripts from various species were sequenced and the data used for phylogenetic analysis. The results suggested that X- and Y-linked S4 homologs began diverging prior to the radiation of placental mammals and evolved independently, with RPS4X under greater functional constraint than RPS4Y. These evolutionary data contrast with the results of Watanabe et al. [33] and Zinn et al. [34] that human RPS4Y is incorporated into ribosomes in vivo and functions interchangeably with RPS4X in cultured cells.
    • (1996) Genomics , vol.31 , pp. 44-50
    • Omoe, K.1    Endo, A.2
  • 39
    • 0030769829 scopus 로고    scopus 로고
    • Discriminant analysis of the Ullrich-Turner syndrome neurocognitive profile
    • Ross JL, Kushner H, Zinn AR. Discriminant analysis of the Ullrich-Turner syndrome neurocognitive profile. Am J Med Genet. 72:1997;275-280.
    • (1997) Am J Med Genet , vol.72 , pp. 275-280
    • Ross, J.L.1    Kushner, H.2    Zinn, A.R.3
  • 41
    • 0031565566 scopus 로고    scopus 로고
    • Human genetics. A father's imprint on his daughter's thinking
    • McGuffin P, Scourfield J. Human genetics. A father's imprint on his daughter's thinking. Nature. 387:1997;652-653.
    • (1997) Nature , vol.387 , pp. 652-653
    • McGuffin, P.1    Scourfield, J.2
  • 42
    • 34547385834 scopus 로고    scopus 로고
    • Not everything is in the genes
    • Anonymous
    • Anonymous Not everything is in the genes. Nature. 387:1997;743.
    • (1997) Nature , vol.387 , pp. 743
  • 44
    • 0031473799 scopus 로고    scopus 로고
    • Mosaicism in Turner's syndrome
    • of special interest. See annotation [45].
    • Henn W, Zang KD. Mosaicism in Turner's syndrome. of special interest Nature. 390:1997;569 See annotation [45].
    • (1997) Nature , vol.390 , pp. 569
    • Henn, W.1    Zang, K.D.2
  • 45
    • 85033243925 scopus 로고    scopus 로고
    • Mosaicism in Turner's syndrome
    • of outstanding interest. Henn and Zang [44] propose that cryptic Y chromosome mosaicism instead of imprinting may explain the findings of Skuse et al. [40], who reply here [45] that additional molecular studies did not reveal such mosaicism.
    • Skuse D, Jacobs P. Mosaicism in Turner's syndrome. of outstanding interest Nature. 390:1997;569 Henn and Zang [44] propose that cryptic Y chromosome mosaicism instead of imprinting may explain the findings of Skuse et al. [40], who reply here [45] that additional molecular studies did not reveal such mosaicism.
    • (1997) Nature , vol.390 , pp. 569
    • Skuse, D.1    Jacobs, P.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.