Gene: [19p133/INSR] insulin receptor; leprechaunism (Donohue syndrome; MIM:246200);

GEN

 The gene length is 120 kb or more. Exons: 22.

EVO

 The homology has been revealed between the insulin receptor, the epidermal growth factor receptor, and family src oncogenes (Ullrich-1985)."

PRO

 Probe Probe Vector Cloning Insert Reference number name name site(s) size(kb)
[1] phINSR 13-1 pBR327 EcoRI 4.2 Shaw,Bell-1985
[2] HIR12.1-B1.3 pUC19 BglI 1.3 Elbein-1986
[3] pHIR/P12-1 pUC12 EcoRI 4.1 Ullrich-1985; ATCC
[4] HIR12.1-P1.6 pUC19 PstI 1.6 Elbein-1986
[5] HIR12.1-H0.7 pUC19 HincII 0.7 Elbein-1986
[6] lambdaHIR-P12 gt10 ? 5.181 Ullrich-1985
[7] pHINSR18-2 pBR327 EcoRI 0.973 Shaw,Bell-1985
[8] pHIR12-2 pUC19 EcoRI 1.0 Ullrich-1985
[9] p12-1PO-8 pUC19 PstI/EcoRI 0.857 Ullrich-1985"

POL

 Restrictase (Reference;Probe number) Alleles in kb/(Popul Freq) Const Bands (kb)
[1] BglII (Elbein-1986; Probes 4 and 5) C1= 20.0+3.4/(0.17); C2= 23.4/(0.83); CBs=8.0+4.7
[2] DraI (Sten-Linder-1989; Probe 1) X1= 4.1/(0.20); X2= 3.6/(0.80);
[3] DraI (Sten-Linder-1989; Probe 1) Y1= 2.9/(0.38); Y2= 1.4/(0.62);
[4] EcoRI (Accili-1986; Probe 9) T1= 5.8/(0.56); T2= 5.5/(0.44); CBs= 13+11+3.08+3.05+3.0
[5] EcoRI (Sanna-1986; Probe 7) K1= 20/(0.12); K2= 22/(0.88); CBs= 7.2+3.2
[6] HindIII (Sanna-1986; Probe 7) L1= 1.4/(0.91); L2= 6.5/(0.09); CB= 14.0
[7] HindIII (Sten-Linder-1989; Probe 1) U1= 14.0/(0.18); U2= 13.5/(0.82);
[8] HindIII (Sten-Linder-1989; Probe 1) V1= 11.2/(0.61); V2= 10.4/(0.39);
[9] HindIII (Sten-Linder-1989; Probe 1) W1= 23/(0.15); W2= 20/(0.85);
[10] KpnI (Cox-1988; Probe 3) P1= 15.9/(0.32); P2= duple 11.2+4.7/(0.68);
[11] PstI (Sanna-1986; Cox-1988; Probe 7) M1= 1.5/(0.83); M2= 2.3/(0.17);
[12] PstI (Sanna-1986; Cox-1988; Probe 7) R1= 15.2/(0.88); R2= 13.7/(0.12);
[13] PvuII (Takeda-1986; Probe 1) G1= 4.4/(0.08); G2= 3.8/(0.92);
[14] RsaI (Elbein-1986; Shaw,Bell-1985; Probes 1 and 2) in Caucasians - A1= 6.8/(0.48); A2= 6.2/(0.52); A3= 6.4/(0.00); A4= 3.4/(0); in American Blacks - A1 /(0.67); A2 /(0.28); A3 /(0.06); A4 /(0.00); in Pima Indians - A1 /(0.17); A2 /(0.48); A3 /(0.00); A4 /(0.34); RsaI (Shaw-1986; Probe 3) A1= 6.7/(0.48); A2= 6.2/(0.52); NB: Controversions exist between data of different auhors, as well as between original sources and HGM10. Both RsaI(A) RFLP systems presented here are most likely to be identical, although Shaw-1986 estimated the size of A1 allele as being 0.1 kb less. In addition, population frequences for alleles A1 and A2 in Caucasoids indicated in HGM10 (p. 806) are erroneously interchanged.
[15] RsaI (Elbein-1986; Shaw,Bell-1985; 1 and 2) B1= 2.2/(0.77); B2= 2.4/(0.23)
[16] RsaI (Shaw-1986; Probe 3) J1= 7.2/(0.15); J2= 6.6/(0.85)
[17] RsaI (Cox-1988; Probe 8) O1= 0.9/(0.87); O2= 0.3/(0.13)
[18] RsaI (Cox-1988; Probe 3) Q1= 1.9/(0.55); Q2= 0.4/(0.45)
[19] SacI/SstI (Elbein-1986; Li-1988; 4) D1= 5.3/(0.88); D2= 5.8/(0.12) (Patel-1988; Probe 4) D1= /(0.86); D2 /(0.14)
[20] SacI (Elbein-1986; Li-1988; Probe 4) in Caucasians - E1= 7.0+2.4/(0.12); E2= 9.4/(0.88); in Japanese - E1 /(0.00); E2 /(1.00);
[21] SstI (Patel-1988; Probe 2) N1= 4.6/(0.66); N2= 3.7/(0.04); N3= 3.6/(0.30); CBs= 7.8+7.2+2.5
[22] TaqI (Elbein-1991; Probe 2) S1= 2.2/(0.90); S2= 1.8/(0.10)"

REF

 POL,MOL "Accili &: NAR, 17, 821, 1989
POL,MOL "Cox &: NAR, 16, 8204, 1988
REV,MEB,FUN "Czech &: JBC, 263, N23, 11017-11020, 1988
POL,MOL "Elbein SC &: NAR, 19, 0, 1991
POL,MOL,LIN "Elbein SC &: PNAS, 83, N14, 5223-5227, 1986
REV,MEB,FUN "Ellis &: Cold Spring Harbor Symp, 51, (Part 2), 773-784, 1986
PEP,SEQ "Fujita-Yamaguchi Y &: Protein Seq Data Anal, 1, 3-6, 1987
EXP,MEB,FUN "Gherzi &: Diabetologia, 32, N7, 491A, 1989
MUT "Hone J &: J Med Genet, 31, 715-716, 1994
REV,MEB,FUN,MOP,EVO "Houslay, Siddle: Brit Med Bull, 45, N1, 264-284, 1989
POL,MOL "Li SR &: Hum Hered, 38, 273-276, 1988
MEB,FUN "O'Hare, Pilch: Biochemistry, 27, 5693-5700, 1988
PAT,LIN,POL,MOL "O'Rahilly S &: Diabetologia, 31, 792-797, 1988
POL,MOL "Patel P &: NAR, 16, N12, 5700, 1988
EVO,INV,SEQ "Petruzzelli &: PNAS, 83, N13, 4710-4714, 1986
POL,MOL "Sanna MA &: NAR, 14, 6776, 1986
GEN,EXP,PEP,EVO "Seino S &: PNAS, 86, N1, 114-118, 1989a
EXP "Seino S, Bell: BBRC, 159, N1, 312-316, 1989b
LIN,MAP,POL,MOL "Shaw DJ &: Hum Genet, 74, 267-269, 1986
CLO,PRO,POL "Shaw DJ, Bell: NAR, 13, 8661, 1985
POL,MOL "Sten-Linder M &: NAR, 17, N3, 1277, 1989
LOC,CYG "Straus &: Diabetes, 34, N8, 816-820, 1985
POL,MOL "Takeda J &: NAR, 14, 6777, 1986
CLO,SEQ,PEP,EVO "Ullrich A &: Nature, 313, 756-761, 1985
LOC,MOL "Yang-Feng TL &: CCG, 40, (HGM8), 785, 1985a
LOC,MOL,LIN,PAT "Yang-Feng TL &: Science, 228, 728-731, 1985b
REV,MEB,FUN,MOP,EVO "Zick &: CR Biochem Mol Biol, 24, N3, 217-269, 1989

KEY

 horm, recp

CLA

 coding, basic

LOC

 19 p13.3

MIM

 MIM: 147670

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