Human growth gene and short stature gene region

Chemistry: molecular biology and microbiology – Micro-organism – tissue cell culture or enzyme using process... – Preparing compound containing saccharide radical

Reexamination Certificate

Rate now

  [ 0.00 ] – not rated yet Voters 0   Comments 0

Details

C435S006120, C435S091100, C536S023100, C536S024300, C536S024330, C536S025300

Reexamination Certificate

active

10158160

ABSTRACT:
Subject of the present invention is an isolated human nucleic acid molecule encoding polypeptides containing a homeobox domain of sixty amino acids having the amino acid sequence of SEQ ID NO: 1 and having regulating activity on human growth. Three novel genes residing within the about 500 kb short stature critical region on the X and Y chromosome were identified. At least one of these genes is responsible for the short stature phenotype. The cDNA corresponding to this gene may be used in diagnostic tools, and to further characterize the molecular basis for the short stature-phenotype. In addition, the identification of the gene product of the gene provides new means and methods for the development of superior therapies for short stature.

REFERENCES:
patent: 4727061 (1988-02-01), Kramer et al.
patent: 4983511 (1991-01-01), Geiger et al.
New England Biolabs Catalog 1986/87 (pp. 60-63). Published by New England Biolabs, 32 Tozer Road, Beverly, MA 01915-9990, USA.
1996/97 New England Biolabs Catalog (pp. 112-114). Published by New England Biolabs, 32 Tozer Road, Beverly, MA 01915-5599, USA.
New England Biolabs Catalog 1986/87 (pp. 55 and 60-63). Published by New England Biolabs, 32 Tozer Road, Beverly, MA 01915-9990, USA.
Ashworth A, Rastan S, Lovell-Badge R, Kay G (1991): X-chromosome inactivation may explain the difference in viability of X0 humans and mice. Nature 351: 406-408, abstract.
Ballabio A, Bardoni A, Carrozzo R, Andria G, Bick D, Campbell L, Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M, Maraschio P, Zuffardi O, Guilo S, Camerino G (1989): Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 86:10001-10005.
Blagowidow N, Page DC, Huff D, Mennuti MT (1989): Ullrich-Turner syndrome in an XY female fetus with deletion of the sex-determining portion of the Y chromosome. Am. J. med. Genet. 34: 159-162, abstract.
Cantrell MA, Bicknell JN, Pagon RA et al. (1989): Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe. Hum. Genet. 83: 88-92, abstract.
Connor JM, Loughlin SAR (1989): Molecular genetics of Turner's syndrome. Acta Pediatr. Scand. (Suppl.) 356: 77-80, abstract.
Disteche CM, Casanova M, Saal H, Friedmen C, Sybert V, Graham J, Thuline H, Page DC, Fellous M (1986): Small deletions of the short arm of the Y-chromosome in 46,XY females. Proc Natl Acad Sci USA 83:7841-7844, abstract.
Ferguson-Smith MA (1965): Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. med. Genet. 2: 142-155.
Ferrari D, Kosher RA, Dealy CN (1994): Limp mesenchymal cells inhibited from undergoing cartilage differentiation by a tumor promoting phorbol ester maintain expression of the homeobox-containing geneMSX1and fail to exhibit gap junctional communication. Biochemical and Biophysical Research Communications. 205(1): 429-434, abstract.
Fischer M, Bur-Romero P, Brown LG et al. (1990): Homologous ribosomal protein genes in the human X- and Y-chromosomes escape from X-inactivation and possible implementation for Turner syndrome. Cell 63: 1205-1218, abstract.
Freund C, Horsford DJ, McInnes RR (1996): Transcription factor genes and the developing eye: a genetic perspective. Hum Mol Genet 5: 1471-1488, abstract.
Gehring WJ, Qian YQ, Billeter M, Furukubo-Tokunaga K, Schier A F, Resendez-Perez D, Affolter M, Otting G, Wüthrich K (1994): Homeodomain-DNA recognition. Cell 78: 211-223.
Gough NM, Gearing DP, Nicola NA, Baker E, Pritchard M, Callen DF, Sutherland GR (1990). Localization of the human GM-CSF receptor gene to the X-Y pseudoautosomal region. Nature 345: 734-736, abstract.
Hall JG, Gilchrist DM (1990): Turner syndrome and its variants. Pedriatr. Clin. North Am. 37: 1421-1436, abstract.
Henke A, Wapenaar M, van Ommen G-J, Maraschio P, Camerino O, Rappold GA (1991): Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth. Am J Hum Genet 49:811-819, abstract.
Hernandez D, Fisher EMC (1996): Down syndrome genetics: unravelling a multifactorial disorder. Hum Mol Genet 5:1411-1416.
Kenyon C (1994): If birds can fly, why can't we? Homeotic genes and evolution. Cell 78: 175-180.
Krumlauf R (1994):Hoxgenes in vertebrate development. Cell 78: 191-201.
Kulharya AS, Roop H, Kukolich MK, Nachtman RG, Belmont JW, Garcia-Heras J (1995): Mild phenotypic effects of a de novo deletion Xpter ® Xp22.3 and duplication 3pter ® 3p23. Am J Med Genet 56:16-21, abstract.
Lawrence PA, Morata G (1994): Homeobox genes: their function in Drosophila segmentation and pattern formation. Cell 78: 181-189.
Levilliers J, Quack B, Weissenbach J, Petit C (1989): Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females. Proc Natl Acad Sci USA 86:2296-2300.
Lippe BM (1991): Turner Syndrome. Endocrinol Metab Clin North Am 20: 121-152, abstract.
Nelson DL, Ballabio A, Cremers F, Monaco AP, Schlessinger D (1995).- Report of the sixth international workshop on the X chromosome mapping. Cytogenet. Cell Genet. 71: 308-342.
Ogata T, Goodfellow P, Petit C, Aya M, Matsuo N (1992): Short stature in a girl with a terminal Xp deletion distal to DXYS15: localization of a growth gene(s) in the pseudoautosomal region. J Med Genet 29:455-459, abstract.
Ogata T, Tyler-Smith C, Purvis-Smith S, Turner G (1993): Chromosomal localisation of a gene(s) for Turner stigmata on Yp. J. Med. Genet. 30: 918-922, abstract.
Ogata T, Yoshizawa. A, Muroya K, Matsuo N, Fukushima Y, Rappold GA, Yokoya S (1995): 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 32:831-834.
Ogata T, Matsuo N (1995): Turner syndrome and female sex chromosome aberrations: deduction of the principle factors involved in the development of clinical features. Hum. Genet. 95: 607-629.
Orita M, Suzuki Y, Sekiya T and Hayashi K (1989): Rapid and sensitive detection of point mutations and polymorphisms using the polymerase chain reaction. Genomics 5:874-879, abstract.
Pohlschmidt M, Rappold GA, Krause M, Ahlert D, Hosenfeld D, Weissenbach J, Gal A (1991): Ring Y chromosome: Molecular characterization by DNA probes. Cytogenet Cell Genet 56:65-68, abstract.
Rao E, Weiss B, Mertz A et al. (1995): Construction of a cosmid contig spanning the short stature candidate region in the pseudoautosomal region PAR 1. in: Turner syndrome in a life span perspective: Research and clinical aspects. Proceedings of the 4th International Symposium on Turner Syndrome, Gothenburg, Sweden, May 18-21, 1995., edited by Albertsson-Wikland K, Ranke MB, pp. 19-24, Elsevier.
Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA (1997): Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nature Genet 16:54-63, abstract.
Rappold GA (1993): The pseudoautosomal region of the human sex chromosomes. Hum Genet 92:315-324.
Rappold GA, Willson TA, Henke A, Gough NM (1992): Arrangement and localization of the human GM-CSF receptor a chain gene CSF2RA within the X-Y pseudoautosomal region. Genomics 14:455-461, abstract.
Reid K, Mertz A, Nagaraja R, Trusnich M, Riley J, Anand R, Page D, Lehrach H., Elliso J, Rappold GA (1995): Characterization of a yeast artificial chromosome contig spanning the pseudoautosomal region. Genomics 29:787-792, abstract.
Magenis RE, Tochen ML Holahan KP, Carey T, Allen L, Brown MG (1984): Turner syndrome resulting from partial deletion of Y-chromosome short arm: localization of male determinants. J Pediatr 105: 916-919, abstract.
P. Saenger et al., The Journal of Clinical Endocrinology & Metabolism, vol. 86, No. 7, pp. 3061-3069, Recommendations for the Diagnosis and Management of Turner Syndrome, 2001.
Rovescalli AC, Asoh S, Nirenberg M (1996): Cloning and character

LandOfFree

Say what you really think

Search LandOfFree.com for the USA inventors and patents. Rate them and share your experience with other people.

Rating

Human growth gene and short stature gene region does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Human growth gene and short stature gene region, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Human growth gene and short stature gene region will most certainly appreciate the feedback.

Rate now

     

Profile ID: LFUS-PAI-O-3892380

  Search
All data on this website is collected from public sources. Our data reflects the most accurate information available at the time of publication.