Recurrent Deletion of the Region Encoding Two (Gly-X-Y) Repeats in Patients with Anhidrotic Ectodermal Dysplasia Indicates Important Role for Collagen-Like Domain of the EDA Gene Product—Ectodysplasin-A

2000 ◽  
Vol 19 (6) ◽  
pp. 425-432
Author(s):  
Krzysztof Kobielak ◽  
Agnieszka Kobielak ◽  
Jadwiga Roszkiewicz ◽  
Janusz Limon ◽  
Wieslaw Henryk Trzeciak
Keyword(s):  
Gene Product ◽  
Ectodermal Dysplasia ◽  
Anhidrotic Ectodermal Dysplasia ◽  
Eda Gene ◽  
Recurrent Deletion

scholarly journals A novel mutation in the bovine <i>EDA</i> gene causing anhidrotic ectodermal dysplasia (Brief report)

2006 ◽  
Vol 49 (6) ◽  
pp. 615-616 ◽  
Author(s):  
C. Drögemüller ◽  
C. S. Barlund ◽  
C. W. Palmer ◽  
T. Leeb
Keyword(s):  
Ectodermal Dysplasia ◽  
Novel Mutation ◽  
Transmembrane Protein ◽  
Deleterious Mutations ◽  
Mouse Mutant ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Eccrine Glands ◽  
Anhidrotic Ectodermal Dysplasia ◽  
Necrosis Factor ◽  
Eda Gene

Abstract. X-linked anhidrotic ectodermal dysplasia (EDA), also called hypohidrotic ectodermal dysplasia (HED), represents a group of similar phenotypes described in humans, the tabby mouse mutant, dog, and cattle (KERE et al., 1996; SRIVASTAVA et al., 1997; CASAL et al., 2005; DRÖGEMÜLLER et al., 2001, 2002). EDA is characterised by the hypoplasia or absence of hair and eccrine glands in addition to dental abnormalities. Ectodysplasin A1 and A2, the two isoforms encoded by the EDA gene, are transmembrane protein members of the tumor necrosis factor (TNF) family and deleterious mutations in the human, murine, canine, and bovine EDA gene, respectively, result in manifestations of EDA.

scholarly journals The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia

2001 ◽  
Vol 17 (4) ◽  
pp. 349-349 ◽  
Author(s):  
Kati Pääkkönen ◽  
Stefano Cambiaghi ◽  
Giuseppe Novelli ◽  
Lizbeth V. Ouzts ◽  
Maila Penttinen ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
Mutation Spectrum ◽  
Anhidrotic Ectodermal Dysplasia ◽  
Eda Gene

scholarly journals A Novel Point Mutation of the EDA Gene in a Japanese Family with Anhidrotic Ectodermal Dysplasia

1998 ◽  
Vol 111 (6) ◽  
pp. 1246-1247 ◽  
Author(s):  
Shinichi Yotsumoto ◽  
Seita Fukumaru ◽  
Shigeto Matsushita ◽  
Tamotsu Kanzaki ◽  
Takeshi Oku ◽  
...  
Keyword(s):  
Point Mutation ◽  
Ectodermal Dysplasia ◽  
Japanese Family ◽  
Anhidrotic Ectodermal Dysplasia ◽  
Eda Gene

scholarly journals A novel mutation of the bovine EDA gene associated with anhidrotic ectodermal dysplasia in Holstein cattle

Hereditas ◽  
2011 ◽  
Vol 148 (1) ◽  
pp. 46-49 ◽  
Author(s):  
Atsushi Ogino ◽  
Namiko Kohama ◽  
Shou Ishikawa ◽  
Keisuke Tomita ◽  
Sumie Nonaka ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
Novel Mutation ◽  
Holstein Cattle ◽  
Anhidrotic Ectodermal Dysplasia ◽  
Eda Gene

scholarly journals Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia.

1998 ◽  
Vol 45 (1) ◽  
pp. 245-250 ◽  
Author(s):  
K Kobielak ◽  
A Kobielak ◽  
J Limon ◽  
W H Trzeciak
Keyword(s):  
Ectodermal Dysplasia ◽  
Clinical Symptoms ◽  
Regulatory Region ◽  
Single Strand Conformation Polymorphism ◽  
Transcription Process ◽  
Exon 1 ◽  
Mesodermal Origin ◽  
Anhidrotic Ectodermal Dysplasia ◽  
Conformation Polymorphism ◽  
Eda Gene

We have investigated a fragment of the regulatory region of the EDA gene in a patient with clinical symptoms of anhidrotic ectodermal dysplasia (EDA), whose DNA sequence of exon 1 was normal. The single-strand conformation polymorphism (SSCP) analysis of PCR-amplified fragments of the regulatory region of the EDA gene suggested a mutation localized within the fragment extending from nucleotide -571 to -182 upstream of the 5' end of the cDNA. Sequence analysis of this fragment documented an additional adenine in position -452, located 32 nucleotides upstream from the response element HK-1, a target for transcription factor LEF-1, involved in the differentiation of tissues of ectodermal and mesodermal origin. We postulate that this mutation might interfere with the transcription process of the EDA gene and might be responsible, at least in part, for the clinical symptoms of anhidrotic ectodermal dysplasia.

scholarly journals The Gene Defective in Anhidrotic Ectodermal Dysplasia Is Expressed in the Developing Epithelium, Neuroectoderm, Thymus, and Bone

1998 ◽  
Vol 46 (3) ◽  
pp. 281-289 ◽  
Author(s):  
Outi Montonen ◽  
Sini Ezer ◽  
Ulpu K. Saarialho-Kere ◽  
Riitta Herva ◽  
Marja-Liisa Karjalainen-Lindsberg ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fetal Development ◽  
Ectodermal Dysplasia ◽  
Human Gene ◽  
Hair Follicles ◽  
Sweat Glands ◽  
Anhidrotic Ectodermal Dysplasia ◽  
Human Fetal Development ◽  
Eda Gene

Anhidrotic ectodermal dysplasia (EDA) is characterized by defects in the development of teeth, hair, and sweat glands. To study the expression of the human gene defective in EDA in human fetal development (Weeks 6–23 of gestational age) and in adult tissues, in situ hybridization and immunohistochemistry were used. First signs of expression were detected at Week 8 in epidermis and in neuroectodermal cells. Starting at Week 12, osteoblasts and thymus were positive for EDA mRNA. Hair follicles expressed EDA mRNA from 18 weeks. The presence of the EDA protein coincided with mRNA expression in the tissues examined. The expression pattern of the EDA gene is consistent with typical involvement of the skin in the syndrome. However, the expression is not limited to the ectodermal tissues and many sites of expression are not obviously reflected in the clinical features of the syndrome.

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