Abstract:
:Genetic analysis of mouse mutants has demonstrated the importance of the homeobox genes Rpx, Lhx3 and Pit1 for anterior pituitary gland development. Pit1 mutations have also been identified in several human families with multiple pituitary hormone deficiencies. To identify additional homeobox regulators of pituitary development, we screened an adult pituitary gland cDNA library for homeobox sequences. Here, we report the identification of a novel bicoid-related homeodomain gene expressing two alternatively spliced mRNA products, which encode proteins of 271 and 317 amino acids, respectively. The proteins have been named Ptx2a and Ptx2b since they are highly related to Ptx1/P-OTX. Ptx2 is expressed in both developing and adult pituitary gland, eye and brain tissues, suggesting an important role in development and maintenance of anterior structures. Ptx2 was mapped close to Egf on mouse chromosome 3, in a region having extensive synteny homology with HSA 4q. These data make the human Ptx2 homologue a candidate gene for Rieger syndrome, an autosomal-dominant disorder with variable craniofacial, dental, eye and pituitary anomalies.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Gage PJ,Camper SAdoi
10.1093/hmg/6.3.457subject
Has Abstractpub_date
1997-03-01 00:00:00pages
457-64issue
3eissn
0964-6906issn
1460-2083pii
dda052journal_volume
6pub_type
杂志文章abstract::In the field of muscular dystrophy, advances in understanding the molecular basis of the various disorders in this group have been rapidly translated into readily applicable diagnostic tests, allowing the provision of more accurate prognostic and genetic counselling. The limb-girdle muscular dystrophies (LGMD) have re...
journal_title:Human molecular genetics
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pub_type: 杂志文章,评审
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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更新日期:2019-01-15 00:00:00
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pub_type: 杂志文章
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更新日期:2006-11-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
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journal_title:Human molecular genetics
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pub_type: 杂志文章,评审
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
pub_type: 杂志文章
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