A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: Proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?

Human Genetics

Volumn 110, Issue 5, 2002, Pages 488-494

  Utsch, Boris ^a   Becker, Karl ^b   Brock, Detlef ^b   Lentze, Michael J ^a   Bidlingmaier, Frank ^a   Ludwig, Michael ^a  

^a UNIVERSITY OF BONN   (Germany)

^b Johanniter Children's Hospital   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

HOX A13 PROTEIN; HOX D13 PROTEIN; HOX PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CODON; CONGENITAL MALFORMATION; CROSSING OVER; DISEASE ASSOCIATION; DOMINANT GENE; FAMILY; FEMALE; GENE DUPLICATION; GENE MUTATION; GENE REPLICATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC DISORDER; GENETIC TRANSCRIPTION; HAND FOOT GENITAL SYNDROME; HOMEOBOX; HOX A13 GENE; HOX D13 GENE; HOX GENE; HUMAN; MALE; MOLECULAR DYNAMICS; MOLECULAR GENETICS; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; TRINUCLEOTIDE REPEAT;

ALLELES; BASE SEQUENCE; EXONS; FEMALE; FOOT DEFORMITIES; HAND DEFORMITIES; HOMEODOMAIN PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PEPTIDES; REPETITIVE SEQUENCES, NUCLEIC ACID; SYNDROME; TRANSCRIPTION FACTORS; UROGENITAL ABNORMALITIES;

EID: 0036590137     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0712-8     Document Type: Article

References (60)

1. Akarzu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M (1996) Genomic structure of HOXD13 gene: A nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum Mol Genet 5:945-952
2. Becker A, Brock D, Ludwig M, Bidlingmaier F, Albers N, Lentze MJ, Utsch B (2002) Malformationen der distallen Extremitäten mit Fehlbildungen des urogenitalen Traktes. Monatsschr Kinderh 150 (in press)
3. Bossone SA, Asselin C, Patel AJ, Marcu KB (1992) MAZ, a zinc finger protein, binds to c-MYC and C2 gene sequences regulating transcriptional initiation and termination. Proc Natl Acad Sci USA 89:7452-7456
4. Brais B, Bouchard JP, Xie YG, Rochefort DL, Chrétien N, Tomé FMS, Lafrenière RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korcyn AD, Heutink P, Mathieu J, Duranceau A, Codère F, Fardeau M, Rouleau GA (1998) Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 18:164-167
5. Brown SA, Warburton D, Brown LY, Yu CY, Roeder ER, Stengel-Rutkowski S, Hennekam RCM, Muenke M (1998) Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophilia odd-paired. Nat Genet 20:180-183
6. spdh mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes. Dev Biol 237:345-353
7. Chen F, Capecchi MR (1997) Targeted mutations in hoxa-9 and hoxb-9 reveal synergistic interactions. Dev Biol 181:186-196
8. Cleveland RH, Holmes LB (1990) Hand-foot-genital syndrome: The importance of hallux varus. Pediatr Radiol 20:339-343
9. Condie BG, Capecchi MR (1994) Mice with targeted disruptions in the paralogous genes hoxa-3 and hoxd-3 reveal synergistic interactions. Nature 370:304-307
10. Cummings CJ, Zoghbi HY (2000) Fourteen and counting: Unraveling trinucleotide repeat diseases. Hum Mol Genet 9:909-916
11. Davis AP, Witte DP, Hsieh-Li HM, Potter SS, Capecchi MR (1995) Absence of radius and ulna in mice lacking hoxa-11 and hoxd11. Nature 375:791-795
12. Devriendt K, Jaeken J, Matthijs G, Van Esch H, Debeer P, Gewillig M, Fryns JP (1999) Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent ductus Botalli. Am J Hum Genet 65:249-251
13. Dollé P, Dierich A, LeMeur M, Shimmang T, Schuhbaur B, Chambon P, Duboule D (1993) Disruption of the Hoxd-13 gene induces localized heterochrony leading to mice with neotenic limbs. Cell 75:431-441
14. Donnenfeld AE, Schrager DS, Corson SL (1992) Update on a family with hand-foot-genital syndrome: Hypospadias and urinary tract abnormalities in two boys from the fourth generation. Am J Med Genet 44:482-484
15. Eichler EE, Holden JJ, Popovich BW, Reiss AL, Snow K, Thibodeau SN, Richards CS, Ward PA, Nelson DL (1994) Length of uninterupted CGG repeats determines instability in the FMR1 gene. Nat Genet 8:88-94
16. Elias S, Simpson JL, Feingold M, Sarto GE (1978) The hand-foot-uterus syndrome: A rare autosomal dominant disorder. Fertil Steril 29:239-240
17. Favier B, Rijli FM, Fromental-Ramain C, Fraulob V, Chambon P, Dollé P (1996) Functional cooperation between the non-paralogous genes Hoxa-10 and Hoxd-11 in the developing forelimb and axial skeleton. Development 122:449-460
18. Fromental-Ramain C, Warot X, Lakkaraju S, Favier B, Haack H, Birling C, Dierich A, Dollé P, Chambon P (1996a) Specific and redundent functions of the paralogoux Hoxa-9 and Hoxd-9 genes in forelimb and axial skeleton patterning. Development 122:461-472
19. Fromental-Ramain C, Warot X, Messadecq N, LeMeur M, Dollé P, Chambon P (1996b) Hoxa-13 and Hoxd-13 play a crucial role in the patterning of the limb autopod. Development 122:2997-3011
20. Fryns JP, Vogels A, Decock P, Van Den Berghe H (1993) The hand-foot-genital syndrome: On the variable expression in affected males. Clin Genet 42:232-234
21. Giedion A, Prader A (1976) Hand-foot-uterus- (HFU) syndrome with hypospadias: The hand-foot-genital- (HFG) syndrome. Pediatr Radiol 4:96-102
22. Geominne L (1981) Syndroom van Poznanski-Stern. Tijdschrift voor Geneeskunde 37:1461-1465
23. Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGaughran J, McKeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ (1997) Synpolydactyly phenotypes correlate with size of expansions in HOXD13 poyalanine tract. Proc Natl Acad Sci USA 94:7458-7463
24. Goodman F, Giovannucci-Uzielli ML, Hall C, Reardon W, Winter R, Scambler P (1998) Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families. Am J Hum Genet 63:992-1000
25. Goodman FR, Bachelli C, Brady FA, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RCM, Scambler PJ (2000) Novel HOXA13 mutations and the phenotypic spectrum and hand-foot-genital syndrome. Am J Hum Genet 67:197-202
26. Goodma FR, Scambler PJ (2001) Human HOX gene mutations. Clin Genet 59:1-11
27. Guttmacher AE (1993) Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias. Am J Med Genet 46:219-222
28. Halal F (1988) The hand-foot-genital (hand-foot-uterus) syndrome: Family report and update. Am J Med Genet 30:793-803
29. Hanna-Rose W, Hansen U (1996) Active repression mechanisms of eukaryotic transcription represoors. Trends Genet 12:229-234
30. Hennekam RCM (1989) Acral-genital anomalies combined with ear anomalies. Am J Med Genet 33:454-455
31. Jaynes JB, O'Farrell PH (1991) Active repression of transcription by the engrailed homeodomain protein. EMBO J 10:1427-1433
32. Johnson RL, Tabin CJ (1997) Molecular models for vertebrate limb development. Cell 90:979-990
33. Johnson KR, Sweet HO, Donahue LR, Ward-Bailey P, Bronson RT, Davisson MT (1998) A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly. Hum Mol Genet 7:1033-1038
34. Karlin S, Burge C (1996) Trinucleotide repeats and long homopeptides in genes and proteins associated with nervous system disease and development. Proc Natl Acad Sci USA 93:1560-1565
35. Kondo T, Zákány J, Innis JW, Duboule D (1997) Of fingers, toes and penises. Nature 390:29
36. Kondo T, Hérault Y, Zákány J, Duboule D (1998) Genetic control of murine limb morphogenesis. Relationships with human syndromes and evolutionary relevance. Mol Cell Endocrinol 140:3-8
37. Krumlauf R (1994) Hox genes in vertebrate development. Cell 78:191-201
38. Kunst CB, Warren ST (1994) Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77:853-861
39. Longmuir GA, Conley RN, Nicholson DL, Whitehead M (1986) The hand-foot-uterus syndrome: A case study. J Manipulative Physiol Ther 9:213-217
40. Ludwig M, Beck A, Wickert L, Bolkenius U, Tittel B, Hinkel K, Budlingmaier F (1998) Female Pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene. J Pediatr Endocrinol Metab 11:657-664
41. Mortlock DP, Post LC, Innis JW (2997) The molecular basis of hypodactyly (Hd): A deletion in Hoxal13 leads to arrest of digitacl arch formation. Nat Genet 13:284-289
42. Mortlock DP, Innis JW (1997) Mutation of HOXA13 in hand-foot-genital syndrome. Nature Genet 15:179-180
43. Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JHM, Owen MJ, Meretelsmann R, Zabel BU, Olsen BR (1997) Mutations involving the transcription factor CBFA1 cause cleidorcranial dysplasia. Cell 89:773-779
44. Muragaki Y, Mundlos S, Upton J, Olsen BR (1996) Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272;548-551
45. Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). Hum Genet DOI 10.1007/s004/s00439-001-0615-0
46. Poznanski AK, Kuhns LR, Lapides J, Stern AM (1975) A new family with the hand-foot-genital syndrome; A wider spectrum of the hand-foot-uterus syndrome. Birth Defects Original Article Series 11:127-135
47. Russell MW, Baker P, Izumo S (1997) Cloning, chromosomal mapping, and expression of the human eHAND gene. Mamm Genome 8:863-865
48. Russell MW, Kemp P, Wang L, Brody LC, Izumo S (1998) Molecular cloning of the human HAND2 gene. Biochim Biophys Acta 1443:393-399
49. Shen Q, Townes PL, Padden C, Newsburger PE (1994) An in-frame trinucleotide repeat in the coding region of the human cellular glutathione peroxidase (GPXI) gene: In vivo polymorphism and in vitro instability. Genomics 23:292-294
50. Small KM, Potter SS (1993) Homeotic transformations and limb defects in Hox A11 mutant mice. Genes Dev 7:2318-2328
51. Stelnicki EJ, Arbeit J, Cass DL, Saner C, Harrison M, Largman C (1998) Modulation of the human homeobox genes PRX-2 and HOXB13 in scarless fetal wounds. J Invest Dermatol. 111:57-63
52. Stern AM, Gall JC Jr, Perry BL, Stimson CW, Weitkamp LR, Poznanski AK (1970) The hand-foot-uterus syndrome. J Pediatr 77:109-116
53. Streisinger G, Okada Y, Emrich J, Newton J, Tsugita A, Terzaghi E, Enouye M (1966) Frameshift Mutations and the Genetic Code. Cold Spring Harb Symp Quant Biol 31:77-84
54. Thompson AA, Nguyen LT (2000) Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet 26:397-398
55. Tsutsui H, Sakatsume O, Itakura K, Yokoyama KK (1996) Members of the MAZ family: A novel cDNA clone for MAZ from human pancreatic islet cells. Biochem Biophys Res Commun 226:801-80
56. Verp MS, Simpson JL, Elias S, Carson SA, Sarto GE, Feingold M (1983) Heritable aspects of uterine anomalies. I. Three familial aggregates with Müllerian fusion anomalies. Fertil Steril 40:80-85
57. Verp MS (1989) Urinary tract abnormalities in hand-foot-genital syndrome. Am J Med Genet 32:555
58. Warren ST (1997) Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13. Science 275:408-409
59. Warot X, Fromental-Ramain C, Fraulob V, Chambon P, Dollé P (1997) Gene dosage-dependent effects of the Hoxa-13 and Hoxd-13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts. Development 124:4781-4791
60. Zákány J, Fromental-Ramain C, Warot X, Duboule D (1997) Regulation of number and size of digits by posterior HOX genes: A dose-dependent mechanism with potential evolutionary implications. Proc Natl Acad Sci USA 94:13695-14700