ライフサイエンスコーパス: enamelin

1 trix proteins (amelogenin, ameloblastin, and enamelin).

2 ecies show evidence of positive selection on enamelin.

3 re correlated with the adaptive evolution of enamelin.

4 monstrated ameloblast-specific expression of enamelin.

5 es that encode ameloblastin, amelogenin, and enamelin.

6 on of mRNA encoding a fourth enamel protein: enamelin.

7 derived from enamel, we recover fragments of enamelin, ameloblastin, matrix metalloprotease-20 and de

8 bservations strongly suggest that the 32-kDa enamelin and amelogenins cooperate to promote nucleation

9 Intact enamelin and proteolytic cleavage products containing it

10 emonstrate ameloblast-specific expression of enamelin and reveal that enamelin is essential for prope

11 namel matrix proteins, including amelogenin, enamelin, and amelotin.

12 tations to the secreted proteins amelogenin, enamelin, and enamelysin result in visibly, structurally

13 atrix proteins amelogenin, ameloblastin, and enamelin are also expressed during this same approximate

14 rter assays revealed increased expression of enamelin but decreased expression of kallikrein 4 (prote

15 e density was not affected in the absence of enamelin, but its volume was, which is likely a conseque

16 rified antipeptide antibody specific for the enamelin carboxyl terminus demonstrate that enamelin is

17 cloned and characterized a full-length human enamelin cDNA and determined by radiation hybrid mapping

18 The longest porcine enamelin cDNA clone has 3907 nucleotides, exclusive of t

19 Polymerase chain-reaction phenotyping of enamelin cDNA suggests that porcine enamelin transcripts

20 hosphorylated serine (p.S216L) in the 32-kDa enamelin cleavage product.

21 of the developing enamel matrix, while other enamelin cleavage products are observed in deeper enamel

22 on/exon junctions within the mouse and human enamelin coding regions are between codons, so there are

23 Patterns of polymorphism in enamelin correspond with population-level differences in

24 e a knock-in mouse carrying a null allele of enamelin (Enam) that has a lacZ reporter gene replacing

25 matrix proteins (EMPs), amelogenin (AMELX), enamelin (ENAM), ameloblastin (AMBN), amelotin (AMTN), t

26 ction on enamel thickness may drive adaptive enamelin evolution in human populations.

27 Our work shows that bursts of adaptive enamelin evolution occur on primate lineages with inferr

28 The restricted pattern of enamelin expression makes the human enamelin gene a prim

29 ucine, suggesting that the allele may affect enamelin function.

30 Defects in the enamelin gene (ENAM) cause amelogenesis imperfecta (AI).

31 To date, 4 unique enamelin gene (ENAM) defects have been identified in kin

32 ttern of enamelin expression makes the human enamelin gene a prime candidate in the etiology of amelo

33 To gain information on the structure of the enamelin gene and to facilitate the future assessment of

34 l enamel formation, and defects in the human enamelin gene cause autosomal dominant amelogenesis impe

35 In general, mutations in the human enamelin gene cause hypoplastic enamel, often with horiz

36 The enamelin gene has 10 exons interrupted by 9 introns.

37 ate the search for specific mutations in the enamelin gene in kindreds suffering from amelogenesis im

38 cloned and characterized the mouse and human enamelin genes.

39 h encodes the largest enamel matrix protein, enamelin, have been demonstrated to cause generalized or

40 , addition of 18 and 80 micro g/mL of 32-kDa enamelin in gels containing 1.5% amelogenin accelerated

41 ilitate the future assessment of the role of enamelin in normal and diseased enamel formation, we hav

42 To improve our understanding of the roles of enamelin in normal enamel formation, and to gain informa

43 Here we report the results of enamelin in situ hybridization in a day 1 mouse developi

44 We propose that phosphorylation of enamelin is critical for its function.

45 Enamelin is critical for proper dental enamel formation,

46 cific expression of enamelin and reveal that enamelin is essential for proper enamel matrix organizat

47 y 1 mouse developing incisor that shows that enamelin is expressed by ameloblasts, but not by odontob

48 ing the secretory stage of enamel formation, enamelin is found among the crystallites in the rod and

49 Enamelin is likely to be essential for proper dental ena

50 The gene encoding human enamelin is located on the long arm of chromosome 4, in

51 In the pig, enamelin is secreted as 186-kDa phosphorylated glycoprot

52 enamelin carboxyl terminus demonstrate that enamelin is synthesized and secreted by secretory-phase

53 Enamelin is the largest protein in the enamel matrix of

54 Although the function of enamelin is unknown, it is thought to participate in ena

55 Enamelin-null (ENAM(-/-)) mice have no enamel.

56 ing AI in mice carrying a p.S55I mutation in enamelin; one of the most commonly mutated proteins unde

57 No enamelin protein could be detected by Western blotting i

58 evelop a deeper understanding of the role of enamelin protein during formation with regard to crystal

59 s of mutations in the ENAM gene encoding the enamelin protein, results in enamel hypoplasia.

60 The effects of amelogenin and the 32-kDa enamelin proteins on apatite nucleation were investigate

61 urther, we generated a novel mouse reporter, Enamelin-tdTomato for identification of ameloblasts in l

62 Ser(216) is one of two serines on the 32-kDa enamelin that is phosphorylated by Golgi casein kinase a

63 Addition of 18 micro g/mL of 32-kDa enamelin to 10% gelatin also caused inhibition of nuclea

64 yping of enamelin cDNA suggests that porcine enamelin transcripts are not alternatively spliced and u

65 he gene encoding the enamel-specific protein enamelin underlies the phenotype observed in this family

66 oblast markers amelogenin, ameloblastin, and enamelin was down-regulated, as was expression of Msx2 a

67 We present analyses of one such candidate, enamelin, whose protein product operates in tooth enamel