Literature DB >> 1404292

Chromosomal localisation of a pseudoautosomal growth gene(s).

T Ogata1, C Petit, G Rappold, N Matsuo, T Matsumoto, P Goodfellow.   

Abstract

Although recent molecular studies in patients with sex chromosome aberrations are consistent with a growth gene(s) being present in the pseudoautosomal region (PAR), the precise location has not been determined. In this report, we describe a Japanese boy and his mother with an interstitial deletion in Xp22.3 and review the correlation between genotype and stature in six cases of partial monosomy of the PAR. The results indicate that the region from DXYS20 to DXYS15 is the critical region for the putative growth gene(s).

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Year:  1992        PMID： 1404292      PMCID： PMC1016092          DOI： 10.1136/jmg.29.9.624

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  29 in total

1.  An RFLP detecting single copy X-chromosome fragment, dic56, from Xp22-Xpter [HGM8 assignment no. DXS 143].

Authors:  W Middlesworth; C Bertelson; L M Kunkel
Journal:  Nucleic Acids Res       Date:  1985-08-12       Impact factor: 16.971

2.  Improvement of trypsin method for banding chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1973-06-02       Impact factor: 79.321

3.  A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes.

Authors:  F Rouyer; M C Simmler; C Johnsson; G Vergnaud; H J Cooke; J Weissenbach
Journal:  Nature       Date:  1986 Jan 23-29       Impact factor: 49.962

4.  A pseudoautosomal gene in man.

Authors:  P J Goodfellow; S M Darling; N S Thomas; P N Goodfellow
Journal:  Science       Date:  1986-11-07       Impact factor: 47.728

5.  Identification and isolation of transcribed human X chromosome DNA sequences.

Authors:  L M Kunkel; U Tantravahi; D M Kurnit; M Eisenhard; G P Bruns; S A Latt
Journal:  Nucleic Acids Res       Date:  1983-11-25       Impact factor: 16.971

Review 6.  A synopsis of the human Y chromosome.

Authors:  E M Bühler
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

7.  Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding.

Authors:  T Ikeuchi
Journal:  Cytogenet Cell Genet       Date:  1984

8.  Direct isolation of the functional human thymidine kinase gene with a cosmid shuttle vector.

Authors:  Y F Lau; Y W Kan
Journal:  Proc Natl Acad Sci U S A       Date:  1984-01       Impact factor: 11.205

9.  Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s).

Authors:  T Ogata; N Matsuo
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

10.  Localization of the human GM-CSF receptor gene to the X-Y pseudoautosomal region.

Authors:  N M Gough; D P Gearing; N A Nicola; E Baker; M Pritchard; D F Callen; G R Sutherland
Journal:  Nature       Date:  1990-06-21       Impact factor: 49.962
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  10 in total

1.  Presence of Turner stigmata in a case of dysgenetic male pseudohermaphroditism with 45,X/46,X+mar karyotype.

Authors:  H Hashimoto; H Maruyama; R Koshida; N Okuda; K Murayama; T Katsumi; K Watanabe; T Sato
Journal:  Arch Dis Child       Date:  1997-03       Impact factor: 3.791

2.  Chromosomal localisation of a Y specific growth gene(s).

Authors:  T Ogata; K Tomita; A Hida; N Matsuo; Y Nakahori; Y Nakagome
Journal:  J Med Genet       Date:  1995-07       Impact factor: 6.318

Review 3.  The pseudoautosomal regions of the human sex chromosomes.

Authors:  G A Rappold
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132

4.  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).

Authors:  T Ogata; A Yoshizawa; K Muroya; N Matsuo; Y Fukushima; G Rappold; S Yokoya
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

5.  Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height.

Authors:  T Ogata; N Matsuo
Journal:  Hum Genet       Date:  1993-07       Impact factor: 4.132

6.  Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.

Authors:  A Meindl; D Hosenfeld; W Brückl; S Schuffenhauer; J Jenderny; A Bacskulin; H C Oppermann; O Swensson; P Bouloux; T Meitinger
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

7.  An analysis of Xq deletions.

Authors:  P Maraschio; R Tupler; L Barbierato; E Dainotti; D Larizza; F Bernardi; H Hoeller; A Garau; L Tiepolo
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132

8.  Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency-x-linked recessive ichthyosis: a case report and review of literature.

Authors:  Kirtisudha Mishra; Vineeta Vijay Batra; Srikanta Basu; Bimbadhar Rath; Renu Saxena
Journal:  Eur J Pediatr       Date:  2012-03-15       Impact factor: 3.183

Review 9.  Chromosomal localisation of a gene(s) for Turner stigmata on Yp.

Authors:  T Ogata; C Tyler-Smith; S Purvis-Smith; G Turner
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

10.  Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.

Authors:  A R Zinn; V S Tonk; Z Chen; W L Flejter; H A Gardner; R Guerra; H Kushner; S Schwartz; V P Sybert; D L Van Dyke; J L Ross
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025
  10 in total

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