Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene LRP4Reportar como inadecuado

Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene LRP4 - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

BMC Genetics

, 8:5

First Online: 23 February 2007Received: 24 November 2006Accepted: 23 February 2007


BackgroundIsolated syndactyly in cattle, also known as mulefoot, is inherited as an autosomal recessive trait with variable penetrance in different cattle breeds. Recently, two independent mutations in the bovine LRP4 gene have been reported as the primary cause of syndactyly in the Holstein and Angus cattle breeds.

ResultsWe confirmed the previously described LRP4 exon 33 two nucleotide substitution in most of the affected Holstein calves and revealed additional evidence for allelic heterogeneity by the identification of four new LRP4 non-synonymous point mutations co-segregating in Holstein, German Simmental and Simmental-Charolais families.

ConclusionWe confirmed a significant role of LRP4 mutations in the pathogenesis of congenital syndactyly in cattle. The newly detected missense mutations in the LRP4 gene represent independent mutations affecting different conserved protein domains. However, the four newly described LRP4 mutations do still not explain all analyzed cases of syndactyly.

AbbreviationsALX4aristaless-like homeobox 4

EGFepidermal growth factor

GJA1gap junction protein alpha 1

HOXD13homeo box D13

LDLlow density lipoprotein

LDLRlow density lipoprotein receptor

LRP4low density lipoprotein receptor-related protein 4

Megf7multiple epidermal growth factor-like domains 7

OMIAonline mendelian inheritance in animals

OMIMonline mendelian inheritance in man

SIFTsorting intolerant from tolerant

Pfamprotein family and domain database

PolyPhenpolymorphism phenotyping

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2156-8-5 contains supplementary material, which is available to authorized users.

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Autor: Cord Drögemüller - Tosso Leeb - Barbara Harlizius - Imke Tammen - Ottmar Distl - Martin Höltershinken - Arcangelo Gentil


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