Elsevier

Genomics

Volume 57, Issue 3, 1 May 1999, Pages 455-458
Genomics

Short Communication
GPC6, a Novel Member of the Glypican Gene Family, Encodes a Product Structurally Related to GPC4 and Is Colocalized withGPC5on Human Chromosome 13

https://doi.org/10.1006/geno.1999.5793Get rights and content

Abstract

Glypicans are a family of cell surface heparan sulfate proteoglycans that appear to play an important role in cellular growth control and differentiation, as is supported by the observation that mutations inGPC3are responsible for Simpson–Golabi–Behmel syndrome (SGBS) in humans. Recently it has been shown that theGPC4gene is tightly clustered withGPC3on the X chromosome and that some patients with SGBS apparently have deletions affecting both genes. We report here the identification of a human cDNA encoding a novel glypican family member, glypican-6. This cDNA encodes a predicted protein of 554 amino acids and is structurally analogous to other members of the glypican gene family, but most highly related to glypican-4. A single GPC6 mRNA of 6.2 kb is detected most abundantly in the ovary, liver, and kidney, with lower levels of mRNA expression also detected in a wide range of other adult tissues. Radiation hybrid analysis mapped theGPC6gene to human chromosome 13 very near theGPC5gene, a member of the glypican family bearing strong similarity toGPC3.

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      Adult height ranges between 132 and 144 cm (−7.0 to −5.5 SD).15 We report that omodysplasia maps to chromosome 13 and is caused by homozygosity for null mutations in GPC6 (MIM 604404), which encodes for the latest described human glypican gene.16 We investigated eight patients and two products of conception from five families (Figure 1) and one additional isolated patient (patient 9).

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    Sequence data from this article have been deposited with the EMBL/GenBank Data Libraries under Accession No. AF111178.

    1

    To whom correspondence should be addressed at the Division of Newborn Medicine, Department of Pediatrics, Washington University Medical School, Box 8116, St. Louis, MO 63110. Telephone: (314) 454-4091. Fax: (314) 454-4875. E-mail:[email protected].

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